Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3073
Gene name Gene Name - the full gene name approved by the HGNC.	Hexosaminidase subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HEXA
Synonyms (NCBI Gene) Gene synonyms aliases	TSD
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q23
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activ

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1800429	C>T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs28941770	C>A,G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs28941771	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs28942071	G>A	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs28942072	A>G,T	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant
rs75211071	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs76173977	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs117160567	A>C	Benign, pathogenic	Intron variant
rs121907952	C>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs121907953	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907954	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907955	C>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907956	C>T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907957	C>T	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907958	C>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs121907959	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907960	GAA>-	Likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs121907961	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907962	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121907963	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs121907966	G>A	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907967	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121907969	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs121907970	G>A,T	Conflicting-interpretations-of-pathogenicity, benign, pathogenic, other	Non coding transcript variant, coding sequence variant, synonymous variant, missense variant
rs121907971	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907972	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907973	T>G	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907974	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907975	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907978	C>G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907980	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs121907981	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs145012038	C>T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs147324677	C>A,G	Likely-pathogenic, pathogenic	Splice donor variant
rs150675340	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs185429231	C>A	Pathogenic	Splice acceptor variant
rs199914308	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs200871198	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200926928	T>C	Pathogenic-likely-pathogenic	Intron variant
rs200936836	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs201497629	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs202173526	G>C	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs267606862	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs370266293	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, intron variant
rs387906309	->GATA	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs387906310	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs387906311	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs543071358	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs566580738	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs575121167	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs587779406	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant, intron variant
rs587779407	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs747372270	T>A,C,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs748190164	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs751248523	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs756040251	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs762060470	C>T	Pathogenic, likely-pathogenic	Intron variant
rs762374961	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs764343937	C>A,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs766138785	C>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs767041069	C>T	Pathogenic	Intron variant, splice donor variant
rs770932296	C>T	Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs772180415	C>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs773446161	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs777042785	AT>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs786204515	->T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs786204585	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs786204754	C>T	Likely-pathogenic	Splice donor variant
rs797044432	C>A,G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs797044433	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797044434	TCC>-	Pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs863225434	T>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs988192535	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Stop gained, intron variant, missense variant, coding sequence variant
rs1057516617	G>A,C	Likely-pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs1057516755	TTGA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516850	A>-	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516908	C>G	Likely-pathogenic	Splice acceptor variant
rs1057517174	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057519458	AA>-,A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, frameshift variant
rs1057519459	T>G	Pathogenic	Intron variant
rs1057519460	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519461	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519462	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519463	GAACTCAT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057519464	T>C,G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1057519465	C>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1057519466	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057519467	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519468	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057521137	C>T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1064794856	G>C	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1309204908	C>A,T	Likely-pathogenic	Splice donor variant, non coding transcript variant
rs1555472161	->G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555472262	A>G	Likely-pathogenic	Non coding transcript variant, splice donor variant
rs1555472270	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555472296	C>A	Likely-pathogenic	Splice acceptor variant
rs1555472406	->GGAT	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555472432	TT>C	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555472440	CCT>A	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555472553	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555473070	AG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555473138	->A	Likely-pathogenic	Splice donor variant
rs1567295184	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1595798033	CTTTA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1595801740	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1595802191	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT028906	hsa-miR-26b-5p	Microarray	19088304
MIRT039954	hsa-miR-615-3p	CLASH	23622248
MIRT664666	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT664665	hsa-miR-4284	HITS-CLIP	23824327
MIRT664664	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT649352	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT649351	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT649350	hsa-miR-5690	HITS-CLIP	23824327
MIRT649349	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT649348	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT649347	hsa-miR-8089	HITS-CLIP	23824327
MIRT649346	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT649344	hsa-miR-6720-3p	HITS-CLIP	23824327
MIRT649345	hsa-miR-4767	HITS-CLIP	23824327
MIRT649343	hsa-miR-566	HITS-CLIP	23824327
MIRT649342	hsa-miR-1908-5p	HITS-CLIP	23824327
MIRT649341	hsa-miR-663a	HITS-CLIP	23824327
MIRT649340	hsa-miR-6787-5p	HITS-CLIP	23824327
MIRT649339	hsa-miR-3175	HITS-CLIP	23824327
MIRT649338	hsa-miR-1343-5p	HITS-CLIP	23824327
MIRT649337	hsa-miR-939-5p	HITS-CLIP	23824327
MIRT649336	hsa-miR-6825-5p	HITS-CLIP	23824327
MIRT649335	hsa-miR-3150a-3p	HITS-CLIP	23824327
MIRT649334	hsa-miR-6763-5p	HITS-CLIP	23824327
MIRT649333	hsa-miR-665	HITS-CLIP	23824327
MIRT460742	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT460741	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT460740	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT460738	hsa-miR-3926	PAR-CLIP	23592263
MIRT460739	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT460737	hsa-miR-548s	PAR-CLIP	23592263
MIRT649345	hsa-miR-4767	PAR-CLIP	27292025
MIRT649345	hsa-miR-4767	PAR-CLIP	27292025
MIRT664666	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT664665	hsa-miR-4284	HITS-CLIP	23824327
MIRT664664	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT649352	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT649351	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT649350	hsa-miR-5690	HITS-CLIP	23824327
MIRT649349	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT649348	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT649347	hsa-miR-8089	HITS-CLIP	23824327
MIRT649346	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT649344	hsa-miR-6720-3p	HITS-CLIP	23824327
MIRT649345	hsa-miR-4767	HITS-CLIP	23824327
MIRT649343	hsa-miR-566	HITS-CLIP	23824327
MIRT649342	hsa-miR-1908-5p	HITS-CLIP	23824327
MIRT649341	hsa-miR-663a	HITS-CLIP	23824327
MIRT649340	hsa-miR-6787-5p	HITS-CLIP	23824327
MIRT649339	hsa-miR-3175	HITS-CLIP	23824327
MIRT649338	hsa-miR-1343-5p	HITS-CLIP	23824327
MIRT649337	hsa-miR-939-5p	HITS-CLIP	23824327
MIRT649336	hsa-miR-6825-5p	HITS-CLIP	23824327
MIRT649335	hsa-miR-3150a-3p	HITS-CLIP	23824327
MIRT649334	hsa-miR-6763-5p	HITS-CLIP	23824327
MIRT649333	hsa-miR-665	HITS-CLIP	23824327
MIRT460742	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT460741	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT460740	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT460738	hsa-miR-3926	PAR-CLIP	23592263
MIRT460739	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT460737	hsa-miR-548s	PAR-CLIP	23592263
MIRT1044685	hsa-miR-127-5p	CLIP-seq
MIRT1044686	hsa-miR-15a	CLIP-seq
MIRT1044687	hsa-miR-15b	CLIP-seq
MIRT1044688	hsa-miR-16	CLIP-seq
MIRT1044689	hsa-miR-195	CLIP-seq
MIRT1044690	hsa-miR-3163	CLIP-seq
MIRT1044691	hsa-miR-323-3p	CLIP-seq
MIRT1044692	hsa-miR-424	CLIP-seq
MIRT1044693	hsa-miR-4282	CLIP-seq
MIRT1044694	hsa-miR-451b	CLIP-seq
MIRT1044695	hsa-miR-497	CLIP-seq
MIRT1556506	hsa-miR-4688	CLIP-seq
MIRT1044685	hsa-miR-127-5p	CLIP-seq
MIRT1044686	hsa-miR-15a	CLIP-seq
MIRT1044687	hsa-miR-15b	CLIP-seq
MIRT1044688	hsa-miR-16	CLIP-seq
MIRT1044689	hsa-miR-195	CLIP-seq
MIRT2009740	hsa-miR-3064-3p	CLIP-seq
MIRT1044690	hsa-miR-3163	CLIP-seq
MIRT1044691	hsa-miR-323-3p	CLIP-seq
MIRT1044692	hsa-miR-424	CLIP-seq
MIRT1044693	hsa-miR-4282	CLIP-seq
MIRT1044695	hsa-miR-497	CLIP-seq
MIRT1556506	hsa-miR-4688	CLIP-seq
MIRT2545737	hsa-miR-149	CLIP-seq
MIRT2009740	hsa-miR-3064-3p	CLIP-seq
MIRT2545738	hsa-miR-3065-3p	CLIP-seq
MIRT2545739	hsa-miR-3190	CLIP-seq
MIRT1044691	hsa-miR-323-3p	CLIP-seq
MIRT2545740	hsa-miR-331-3p	CLIP-seq
MIRT2545741	hsa-miR-339-3p	CLIP-seq
MIRT2545742	hsa-miR-4283	CLIP-seq
MIRT2545743	hsa-miR-4435	CLIP-seq
MIRT1556506	hsa-miR-4688	CLIP-seq
MIRT2545744	hsa-miR-4742-5p	CLIP-seq
MIRT2545745	hsa-miR-4768-5p	CLIP-seq
MIRT2545746	hsa-miR-515-5p	CLIP-seq
MIRT2545747	hsa-miR-671-5p	CLIP-seq
MIRT2545737	hsa-miR-149	CLIP-seq
MIRT2009740	hsa-miR-3064-3p	CLIP-seq
MIRT2545738	hsa-miR-3065-3p	CLIP-seq
MIRT2545739	hsa-miR-3190	CLIP-seq
MIRT1044691	hsa-miR-323-3p	CLIP-seq
MIRT2545740	hsa-miR-331-3p	CLIP-seq
MIRT2545741	hsa-miR-339-3p	CLIP-seq
MIRT2545742	hsa-miR-4283	CLIP-seq
MIRT2545743	hsa-miR-4435	CLIP-seq
MIRT1556506	hsa-miR-4688	CLIP-seq
MIRT2545744	hsa-miR-4742-5p	CLIP-seq
MIRT2545745	hsa-miR-4768-5p	CLIP-seq
MIRT2545746	hsa-miR-515-5p	CLIP-seq
MIRT2545747	hsa-miR-671-5p	CLIP-seq

Show/Hide all(50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	IBA
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	IDA	8123671, 8672428, 9694901
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	IEA
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	TAS
GO:0005515	Function	Protein binding	IPI	16698036, 28514442, 33961781
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IDA	25645918
GO:0006491	Process	N-glycan processing	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006689	Process	Ganglioside catabolic process	IBA
GO:0006689	Process	Ganglioside catabolic process	IDA	8123671, 8672428, 9694901
GO:0006689	Process	Ganglioside catabolic process	IEA
GO:0007040	Process	Lysosome organization	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IDA	25645918
GO:0008375	Function	Acetylglucosaminyltransferase activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019915	Process	Lipid storage	IEA
GO:0019953	Process	Sexual reproduction	IEA
GO:0030203	Process	Glycosaminoglycan metabolic process	IBA
GO:0030203	Process	Glycosaminoglycan metabolic process	IDA	11707436, 25645918
GO:0030203	Process	Glycosaminoglycan metabolic process	IEA
GO:0030209	Process	Dermatan sulfate proteoglycan catabolic process	IEA
GO:0030214	Process	Hyaluronan catabolic process	IEA
GO:0042552	Process	Myelination	IEA
GO:0042582	Component	Azurophil granule	IDA	25645918
GO:0042582	Component	Azurophil granule	IEA
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	NAS	6458607
GO:0043202	Component	Lysosomal lumen	TAS
GO:0046982	Function	Protein heterodimerization activity	IDA	6230359
GO:0048667	Process	Cell morphogenesis involved in neuron differentiation	IEA
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:1901135	Process	Carbohydrate derivative metabolic process	IEA
GO:1905379	Component	Beta-N-acetylhexosaminidase complex	IDA	11707436
GO:1905379	Component	Beta-N-acetylhexosaminidase complex	IEA
GO:1905379	Component	Beta-N-acetylhexosaminidase complex	IPI	16698036

MIM	HGNC	e!Ensembl
606869	4878	ENSG00000213614

Protein

UniProt ID

P06865

Protein name

Beta-hexosaminidase subunit alpha (EC 3.2.1.52) (Beta-N-acetylhexosaminidase subunit alpha) (Hexosaminidase subunit A) (N-acetyl-beta-glucosaminidase subunit alpha)

Protein function

Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from certain mucopolysaccharides (PubMed:11707436, Pub

PDB

2GJX , 2GK1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14845	Glycohydro_20b2	23 → 145	beta-acetyl hexosaminidase like	Domain
PF00728	Glyco_hydro_20	167 → 488	Glycosyl hydrolase family 20, catalytic domain	Domain

Sequence

MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSV
LDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTI
NDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHY
LPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVK
EVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEF
MSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLL
DIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPW
YLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAV
AERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT

Sequence length

529

Interactions

View interactions

	KEGG		Reactome
	Other glycan degradation Various types of N-glycan biosynthesis Amino sugar and nucleotide sugar metabolism Glycosaminoglycan degradation Sphingolipid metabolism Glycosphingolipid biosynthesis - globo and isoglobo series Glycosphingolipid biosynthesis - ganglio series Metabolic pathways Lysosome		Glycosphingolipid metabolism Keratan sulfate degradation CS/DS degradation Hyaluronan uptake and degradation Defective HEXA causes GM2G1

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mental retardation	intellectual disability	rs387906309	N/A
Tay-Sachs Disease	tay-sachs disease, tay-sachs disease, b1 variant	rs28941770, rs1567295184, rs1057519467, rs587779406, rs748190164, rs28942071, rs773446161, rs988192535, rs1555472270, rs1057517174, rs121907971, rs1595816410, rs1057519466, rs587779407, rs370266293 View all (97 more)	N/A
Developmental Delay	global developmental delay	rs28941770	N/A

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Disease	Associate	16698036
Gangliosidoses GM2	Associate	17237499, 1827944, 2220809, 6224417, 747188, 7902672
Heredodegenerative Disorders Nervous System	Associate	31293106
Intellectual Disability	Associate	27218255
Lysosomal Storage Diseases	Associate	27682588
Melanoma	Associate	941901
Mucolipidoses	Associate	23535491
Pancreatic Neoplasms	Associate	31917448
Parkinson Disease	Inhibit	24189015
Renal Insufficiency Chronic	Associate	24189015
Sandhoff Disease	Associate	36142595
Tay Sachs Disease	Associate	10806593, 11463833, 12180151, 1307230, 1322637, 1384323, 14769930, 16698036, 17144924, 1831451, 1833974, 20926324, 2220809, 22723944, 23535491 View all (26 more)
Tay Sachs Disease	Inhibit	868875, 941901
Tay Sachs Disease AB Variant	Associate	36142595

HEXA (hexosaminidase subunit alpha)