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GALC (galactosylceramidase)

Gene

Galactosylceramidase

GALC

14q31.3

This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as

Show/Hide all(128)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11623	C>A,G,T	Pathogenic	Intron variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs11300320	AA>-,A,AAA	Likely-benign, benign, uncertain-significance, likely-pathogenic	Intron variant
rs34134328	G>A,C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign	Coding sequence variant, missense variant
rs121908010	C>A	Pathogenic	Stop gained, coding sequence variant
rs138577661	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145580093	T>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147313927	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs181066089	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs183105855	T>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs185073540	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199847983	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs200378205	C>G,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs200532368	G>A,C,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, missense variant, stop gained
rs200607029	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs200960659	G>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs201422931	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs202131052	T>A	Pathogenic	Coding sequence variant, stop gained
rs202135871	A>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs373587692	G>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, missense variant
rs374635469	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs375867319	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs377274761	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs387906952	C>T	Pathogenic	Coding sequence variant, missense variant
rs387906953	A>C	Pathogenic	Coding sequence variant, missense variant
rs387906954	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs387906955	C>A,T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, missense variant
rs398123175	A>C	Pathogenic	Splice donor variant
rs398123177	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs556647825	A>G	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs745620101	C>T	Pathogenic	Coding sequence variant, stop gained
rs746806459	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs746922378	T>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs748140458	C>T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, intron variant
rs748573754	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs749597090	C>T	Likely-pathogenic	Splice donor variant
rs749708827	CGTGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs749893889	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs750524447	C>A,T	Likely-pathogenic	Splice donor variant
rs751283440	AAA>-,AA	Likely-pathogenic	Inframe indel, stop gained, coding sequence variant
rs751975987	C>A,G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs752537626	T>G	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs756352952	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs756690487	C>T	Pathogenic	Missense variant, coding sequence variant
rs757407613	T>C	Pathogenic	Missense variant, coding sequence variant
rs758685128	C>T	Likely-pathogenic	Intron variant, genic upstream transcript variant, upstream transcript variant, initiator codon variant, missense variant
rs759068540	ACCATGGTTT>-	Conflicting-interpretations-of-pathogenicity	Intron variant, splice donor variant, coding sequence variant
rs759511006	C>T	Likely-pathogenic	Splice donor variant
rs761550284	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs762034337	T>A,C,G	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs766007316	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs766310671	G>A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs770389075	GAG>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs770485731	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs771111145	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs771489305	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs775277935	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs776368825	G>A,T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs777955784	CCTTA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs779701490	C>A	Likely-pathogenic	Splice donor variant
rs780750448	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs780972896	A>G,T	Likely-pathogenic	Intron variant, missense variant, upstream transcript variant, initiator codon variant, genic upstream transcript variant
rs786204454	A>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs786204618	G>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs794727116	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs886039569	A>G	Pathogenic	Coding sequence variant, missense variant
rs886042057	C>G	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant, upstream transcript variant, intron variant
rs886042645	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs886043419	->CT	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, frameshift variant
rs886050866	T>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs959445153	G>A,C	Likely-pathogenic	Synonymous variant, stop gained, intron variant, coding sequence variant
rs968905231	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs997021099	T>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1009872980	C>A,G,T	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice donor variant, intron variant
rs1057516270	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516394	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516433	A>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516453	A>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1057516469	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516632	A>C	Likely-pathogenic	Splice donor variant
rs1057516642	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057516673	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1057516808	C>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516816	G>A,C,T	Likely-pathogenic	Upstream transcript variant, intron variant, coding sequence variant, stop gained, genic upstream transcript variant, synonymous variant
rs1057517033	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517082	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517185	->CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517187	CACCCCGCCGCCGCT>-	Likely-pathogenic	Intron variant, upstream transcript variant, coding sequence variant, splice donor variant, genic upstream transcript variant
rs1057517372	->ACT	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517382	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057518390	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1057518843	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1060499761	A>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1064793131	C>-	Likely-pathogenic	Upstream transcript variant, intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1064795927	A>-	Likely-pathogenic	Upstream transcript variant, intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1240965365	G>A,C	Likely-benign, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1336726861	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1428763453	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1555377947	C>G	Likely-pathogenic	Splice acceptor variant
rs1555378534	A>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1555378538	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555378562	C>T	Likely-pathogenic	Splice acceptor variant
rs1555378701	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555379355	CAAC>-	Pathogenic	Splice donor variant, coding sequence variant
rs1555379669	C>G	Likely-pathogenic	Splice donor variant
rs1555381417	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1555381439	ACTGTCTTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555381559	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1555381958	AA>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1555383306	C>T	Likely-pathogenic	Intron variant
rs1555383308	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555383310	C>G	Likely-pathogenic	Splice acceptor variant
rs1555383498	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555383517	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555383679	->T	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1555383687	TTA>-	Conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant
rs1555384318	C>T	Pathogenic	Coding sequence variant, missense variant, intron variant, genic upstream transcript variant, upstream transcript variant
rs1555384335	GAG>C	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1555384342	->CGCCGGGCGCCAGC	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1555384360	TA>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1555384380	C>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1555384381	->C	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1555384382	T>C	Likely-pathogenic	Initiator codon variant, missense variant, intron variant, genic upstream transcript variant, upstream transcript variant
rs1566967736	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1566972341	G>C	Pathogenic	Stop gained, coding sequence variant
rs1566974586	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1595190129	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1595236714	T>C	Likely-pathogenic	Splice acceptor variant
rs1595246385	CGCCGAACCC>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, intron variant, genic upstream transcript variant

Show/Hide all(251)

miRTarBase ID	miRNA	Experiments	Reference
MIRT053631	hsa-let-7f-5p	Microarray	22942087
MIRT664804	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT649811	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT649810	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT649809	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT649808	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT649807	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT649806	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT649805	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT649804	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649802	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT649803	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT649801	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT649811	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT649810	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT649809	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT649808	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT649807	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT649806	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT649805	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT649804	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649802	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT649803	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT649801	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT440591	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT440591	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT664804	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT649811	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT649810	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT649809	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT649808	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT649807	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT649806	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT649805	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT649804	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649802	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT649803	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT649801	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT649811	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT649810	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT649809	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT649808	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT649807	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT649806	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT649805	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT649804	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649802	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT649803	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT649801	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT1010455	hsa-miR-122	CLIP-seq
MIRT1010456	hsa-miR-1237	CLIP-seq
MIRT1010457	hsa-miR-1273d	CLIP-seq
MIRT1010458	hsa-miR-127-5p	CLIP-seq
MIRT1010459	hsa-miR-149	CLIP-seq
MIRT1010460	hsa-miR-15a	CLIP-seq
MIRT1010461	hsa-miR-15b	CLIP-seq
MIRT1010462	hsa-miR-16	CLIP-seq
MIRT1010463	hsa-miR-195	CLIP-seq
MIRT1010464	hsa-miR-24	CLIP-seq
MIRT1010465	hsa-miR-300	CLIP-seq
MIRT1010466	hsa-miR-3134	CLIP-seq
MIRT1010467	hsa-miR-3136-5p	CLIP-seq
MIRT1010468	hsa-miR-3148	CLIP-seq
MIRT1010469	hsa-miR-3152-3p	CLIP-seq
MIRT1010470	hsa-miR-342-5p	CLIP-seq
MIRT1010471	hsa-miR-3614-5p	CLIP-seq
MIRT1010472	hsa-miR-3659	CLIP-seq
MIRT1010473	hsa-miR-3688-3p	CLIP-seq
MIRT1010474	hsa-miR-371-5p	CLIP-seq
MIRT1010475	hsa-miR-381	CLIP-seq
MIRT1010476	hsa-miR-3925-5p	CLIP-seq
MIRT1010477	hsa-miR-3926	CLIP-seq
MIRT1010478	hsa-miR-409-5p	CLIP-seq
MIRT1010479	hsa-miR-424	CLIP-seq
MIRT1010480	hsa-miR-4284	CLIP-seq
MIRT1010481	hsa-miR-4302	CLIP-seq
MIRT1010482	hsa-miR-4310	CLIP-seq
MIRT1010483	hsa-miR-4314	CLIP-seq
MIRT1010484	hsa-miR-4426	CLIP-seq
MIRT1010485	hsa-miR-4439	CLIP-seq
MIRT1010486	hsa-miR-4468	CLIP-seq
MIRT1010487	hsa-miR-4513	CLIP-seq
MIRT1010488	hsa-miR-4520a-3p	CLIP-seq
MIRT1010489	hsa-miR-4520b-3p	CLIP-seq
MIRT1010490	hsa-miR-4524	CLIP-seq
MIRT1010491	hsa-miR-4534	CLIP-seq
MIRT1010492	hsa-miR-4536	CLIP-seq
MIRT1010493	hsa-miR-4647	CLIP-seq
MIRT1010494	hsa-miR-4651	CLIP-seq
MIRT1010495	hsa-miR-4662b	CLIP-seq
MIRT1010496	hsa-miR-4664-5p	CLIP-seq
MIRT1010497	hsa-miR-4666-3p	CLIP-seq
MIRT1010498	hsa-miR-4666-5p	CLIP-seq
MIRT1010499	hsa-miR-4667-5p	CLIP-seq
MIRT1010500	hsa-miR-4700-5p	CLIP-seq
MIRT1010501	hsa-miR-4708-3p	CLIP-seq
MIRT1010502	hsa-miR-4709-3p	CLIP-seq
MIRT1010503	hsa-miR-4777-3p	CLIP-seq
MIRT1010504	hsa-miR-4778-5p	CLIP-seq
MIRT1010505	hsa-miR-4802-3p	CLIP-seq
MIRT1010506	hsa-miR-483-3p	CLIP-seq
MIRT1010507	hsa-miR-485-3p	CLIP-seq
MIRT1010508	hsa-miR-488	CLIP-seq
MIRT1010509	hsa-miR-497	CLIP-seq
MIRT1010510	hsa-miR-503	CLIP-seq
MIRT1010511	hsa-miR-548s	CLIP-seq
MIRT1010512	hsa-miR-581	CLIP-seq
MIRT1010513	hsa-miR-589	CLIP-seq
MIRT1010514	hsa-miR-608	CLIP-seq
MIRT1010515	hsa-miR-637	CLIP-seq
MIRT1010516	hsa-miR-646	CLIP-seq
MIRT1010517	hsa-miR-664	CLIP-seq
MIRT1010518	hsa-miR-888	CLIP-seq
MIRT1010519	hsa-miR-890	CLIP-seq
MIRT1010520	hsa-miR-892b	CLIP-seq
MIRT1010521	hsa-miR-943	CLIP-seq
MIRT1010522	hsa-miR-1207-3p	CLIP-seq
MIRT1010455	hsa-miR-122	CLIP-seq
MIRT1010456	hsa-miR-1237	CLIP-seq
MIRT1010458	hsa-miR-127-5p	CLIP-seq
MIRT1010523	hsa-miR-1323	CLIP-seq
MIRT1010524	hsa-miR-155	CLIP-seq
MIRT1010525	hsa-miR-219-2-3p	CLIP-seq
MIRT1010526	hsa-miR-2964a-3p	CLIP-seq
MIRT1010465	hsa-miR-300	CLIP-seq
MIRT1010527	hsa-miR-3074-3p	CLIP-seq
MIRT1010466	hsa-miR-3134	CLIP-seq
MIRT1010467	hsa-miR-3136-5p	CLIP-seq
MIRT1010470	hsa-miR-342-5p	CLIP-seq
MIRT1010528	hsa-miR-34b	CLIP-seq
MIRT1010529	hsa-miR-3613-3p	CLIP-seq
MIRT1010471	hsa-miR-3614-5p	CLIP-seq
MIRT1010472	hsa-miR-3659	CLIP-seq
MIRT1010530	hsa-miR-3680	CLIP-seq
MIRT1010531	hsa-miR-3682-3p	CLIP-seq
MIRT1010473	hsa-miR-3688-3p	CLIP-seq
MIRT1010475	hsa-miR-381	CLIP-seq
MIRT1010476	hsa-miR-3925-5p	CLIP-seq
MIRT1010478	hsa-miR-409-5p	CLIP-seq
MIRT1010532	hsa-miR-4264	CLIP-seq
MIRT1010533	hsa-miR-4276	CLIP-seq
MIRT1010483	hsa-miR-4314	CLIP-seq
MIRT1010534	hsa-miR-4420	CLIP-seq
MIRT1010485	hsa-miR-4439	CLIP-seq
MIRT1010486	hsa-miR-4468	CLIP-seq
MIRT1010487	hsa-miR-4513	CLIP-seq
MIRT1010491	hsa-miR-4534	CLIP-seq
MIRT1010494	hsa-miR-4651	CLIP-seq
MIRT1010496	hsa-miR-4664-5p	CLIP-seq
MIRT1010497	hsa-miR-4666-3p	CLIP-seq
MIRT1010498	hsa-miR-4666-5p	CLIP-seq
MIRT1010499	hsa-miR-4667-5p	CLIP-seq
MIRT1010535	hsa-miR-4680-3p	CLIP-seq
MIRT1010500	hsa-miR-4700-5p	CLIP-seq
MIRT1010504	hsa-miR-4778-5p	CLIP-seq
MIRT1010536	hsa-miR-4797-3p	CLIP-seq
MIRT1010505	hsa-miR-4802-3p	CLIP-seq
MIRT1010537	hsa-miR-495	CLIP-seq
MIRT1010538	hsa-miR-499-3p	CLIP-seq
MIRT1010539	hsa-miR-499a-3p	CLIP-seq
MIRT1010540	hsa-miR-548o	CLIP-seq
MIRT1010541	hsa-miR-568	CLIP-seq
MIRT1010513	hsa-miR-589	CLIP-seq
MIRT1010514	hsa-miR-608	CLIP-seq
MIRT1010515	hsa-miR-637	CLIP-seq
MIRT1010542	hsa-miR-875-3p	CLIP-seq
MIRT1010521	hsa-miR-943	CLIP-seq
MIRT1999256	hsa-miR-216a	CLIP-seq
MIRT1999257	hsa-miR-302a	CLIP-seq
MIRT1999258	hsa-miR-302b	CLIP-seq
MIRT1999259	hsa-miR-302c	CLIP-seq
MIRT1999260	hsa-miR-302d	CLIP-seq
MIRT1999261	hsa-miR-302e	CLIP-seq
MIRT1010527	hsa-miR-3074-3p	CLIP-seq
MIRT1010468	hsa-miR-3148	CLIP-seq
MIRT1999262	hsa-miR-361-5p	CLIP-seq
MIRT1010473	hsa-miR-3688-3p	CLIP-seq
MIRT1999263	hsa-miR-3689a-3p	CLIP-seq
MIRT1999264	hsa-miR-3689c	CLIP-seq
MIRT1999265	hsa-miR-372	CLIP-seq
MIRT1999266	hsa-miR-373	CLIP-seq
MIRT1999267	hsa-miR-4261	CLIP-seq
MIRT1999268	hsa-miR-4328	CLIP-seq
MIRT1999269	hsa-miR-452	CLIP-seq
MIRT1010492	hsa-miR-4536	CLIP-seq
MIRT1010497	hsa-miR-4666-3p	CLIP-seq
MIRT1999270	hsa-miR-4676-3p	CLIP-seq
MIRT1999271	hsa-miR-4762-5p	CLIP-seq
MIRT1999272	hsa-miR-4778-3p	CLIP-seq
MIRT1010505	hsa-miR-4802-3p	CLIP-seq
MIRT1010507	hsa-miR-485-3p	CLIP-seq
MIRT1010508	hsa-miR-488	CLIP-seq
MIRT1999273	hsa-miR-519a	CLIP-seq
MIRT1999274	hsa-miR-519b-3p	CLIP-seq
MIRT1999275	hsa-miR-519c-3p	CLIP-seq
MIRT1999276	hsa-miR-520a-3p	CLIP-seq
MIRT1999277	hsa-miR-520b	CLIP-seq
MIRT1999278	hsa-miR-520c-3p	CLIP-seq
MIRT1999279	hsa-miR-520d-3p	CLIP-seq
MIRT1999280	hsa-miR-520e	CLIP-seq
MIRT1010517	hsa-miR-664	CLIP-seq
MIRT1010474	hsa-miR-371-5p	CLIP-seq
MIRT1010477	hsa-miR-3926	CLIP-seq
MIRT1010506	hsa-miR-483-3p	CLIP-seq
MIRT1010511	hsa-miR-548s	CLIP-seq
MIRT1010518	hsa-miR-888	CLIP-seq
MIRT2232948	hsa-miR-128	CLIP-seq
MIRT2536619	hsa-miR-101	CLIP-seq
MIRT2536620	hsa-miR-1299	CLIP-seq
MIRT2536621	hsa-miR-139-5p	CLIP-seq
MIRT1010460	hsa-miR-15a	CLIP-seq
MIRT1010461	hsa-miR-15b	CLIP-seq
MIRT1010462	hsa-miR-16	CLIP-seq
MIRT1010463	hsa-miR-195	CLIP-seq
MIRT1999256	hsa-miR-216a	CLIP-seq
MIRT1010466	hsa-miR-3134	CLIP-seq
MIRT1010469	hsa-miR-3152-3p	CLIP-seq
MIRT1010473	hsa-miR-3688-3p	CLIP-seq
MIRT1010474	hsa-miR-371-5p	CLIP-seq
MIRT2536622	hsa-miR-371b-5p	CLIP-seq
MIRT2536623	hsa-miR-377	CLIP-seq
MIRT2536624	hsa-miR-3978	CLIP-seq
MIRT1010479	hsa-miR-424	CLIP-seq
MIRT1010481	hsa-miR-4302	CLIP-seq
MIRT2536625	hsa-miR-4315	CLIP-seq
MIRT2536626	hsa-miR-4327	CLIP-seq
MIRT2536627	hsa-miR-433	CLIP-seq
MIRT1010484	hsa-miR-4426	CLIP-seq
MIRT1010490	hsa-miR-4524	CLIP-seq
MIRT2536628	hsa-miR-4528	CLIP-seq
MIRT1010491	hsa-miR-4534	CLIP-seq
MIRT1010493	hsa-miR-4647	CLIP-seq
MIRT1010495	hsa-miR-4662b	CLIP-seq
MIRT2536629	hsa-miR-4672	CLIP-seq
MIRT2536630	hsa-miR-4700-3p	CLIP-seq
MIRT1010501	hsa-miR-4708-3p	CLIP-seq
MIRT1010502	hsa-miR-4709-3p	CLIP-seq
MIRT2536631	hsa-miR-4728-3p	CLIP-seq
MIRT1999271	hsa-miR-4762-5p	CLIP-seq
MIRT1010503	hsa-miR-4777-3p	CLIP-seq
MIRT2536632	hsa-miR-4782-5p	CLIP-seq
MIRT1010505	hsa-miR-4802-3p	CLIP-seq
MIRT1010506	hsa-miR-483-3p	CLIP-seq
MIRT1010509	hsa-miR-497	CLIP-seq
MIRT1010510	hsa-miR-503	CLIP-seq
MIRT2536633	hsa-miR-516b	CLIP-seq
MIRT2536634	hsa-miR-518a-5p	CLIP-seq
MIRT2536635	hsa-miR-527	CLIP-seq
MIRT1010516	hsa-miR-646	CLIP-seq
MIRT1010542	hsa-miR-875-3p	CLIP-seq
MIRT1010518	hsa-miR-888	CLIP-seq

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004336	Function	Galactosylceramidase activity	IBA	21873635
GO:0004336	Function	Galactosylceramidase activity	IDA	8281145, 8399327
GO:0004336	Function	Galactosylceramidase activity	ISS
GO:0004336	Function	Galactosylceramidase activity	TAS
GO:0005764	Component	Lysosome	IBA	21873635
GO:0006683	Process	Galactosylceramide catabolic process	IBA	21873635
GO:0006683	Process	Galactosylceramide catabolic process	IDA	8399327
GO:0006683	Process	Galactosylceramide catabolic process	ISS
GO:0006687	Process	Glycosphingolipid metabolic process	TAS
GO:0042552	Process	Myelination	IEA
GO:0043202	Component	Lysosomal lumen	TAS

MIM	HGNC	e!Ensembl
606890	4115	ENSG00000054983

Protein

UniProt ID

P54803

Protein name

Galactocerebrosidase (GALCERase) (EC 3.2.1.46) (Galactocerebroside beta-galactosidase) (Galactosylceramidase) (Galactosylceramide beta-galactosidase)

Protein function

Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine (PubMed:8281145, PubMed:8399327). Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipi

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02057	Glyco_hydro_59	55 → 349	Glycosyl hydrolase family 59	Family
PF17387	Glyco_hydro_59M	357 → 473	Glycosyl hydrolase family 59 central domain	Domain

Sequence

MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGA
VSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYA
LDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIV
GAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLD
AELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGY
MTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKT
VGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEI
PELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLP
PKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPIT
WAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIF
ANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPK
NGWAAIGTHSFEFAQFDNFLVEATR

Sequence length

685

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Metabolic pathways Lysosome		Glycosphingolipid metabolism

Associated diseases

Show/Hide Causal Diseases (8)

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919
Leukodystrophy	Leukodystrophy, Late-Onset Globoid Cell Leukodystrophy, Infantile Globoid Cell Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417	23319190
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	24076602
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575

Show/Hide Unknown Diseases (10)

Unknown
Disease name	Disease term	dbSNP ID	References
Central nervous system demyelination	Central nervous system demyelination
Drachtman weinblatt sitarz syndrome	Congenital neurologic anomalies		30209698
Globoid cell leukodystrophy	Globoid cell leukodystrophy		26865610, 8940268, 16607461, 23430802, 23128445, 10477434, 8786069, 9338580, 23138179, 26795590, 10448809, 20886637, 21876145, 9005874, 8595408, 25265039, 17579360, 21824559, 27604308, 22704718, 10234611, 12699861, 27126738, 11151421, 20410102, 8687180, 9272171, 27780934, 24297913, 24252386, 26108647, 19302934, 27638593, 24357685, 20135576, 28598007, 9371928, 27638604, 23462331, 8297359, 25260228, 23197103, 30209698, 23319190, 8281145, 27679535, 21070211, 27442402, 9266397, 26915362, 22115770, 22520351, 29120458, 23509109, 28600779, 24913062, 27785412, 28547031, 28976722, 23620143, 3362311, 10464649, 16759875
Immune thrombocytopenic purpura	Immune thrombocytopenic purpura
Krabbe disease	Infantile Krabbe disease, Late-infantile/juvenile Krabbe disease, Adult Krabbe disease
Lupus erythematosus	Lupus Erythematosus, Systemic		28714469
Hypoglycemia	Neonatal hypoglycemia
Sensorimotor neuropathy	Sensorimotor neuropathy
Status epilepticus	Status Epilepticus
Strabismus	Strabismus

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