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

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	594
Gene name Gene Name - the full gene name approved by the HGNC.	Branched chain keto acid dehydrogenase E1 subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BCKDHB
Synonyms (NCBI Gene) Gene synonyms aliases	BCKDE1B, BCKDH E1-beta, E1B, MSUD1B, OVD1B
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q14.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in

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SNP ID	Visualize variation	Clinical significance	Consequence
rs79761867	G>A,C	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs121965004	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121965005	T>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs148905512	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs149766077	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs190867671	T>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, synonymous variant, 3 prime UTR variant, stop gained, genic downstream transcript variant
rs371518124	G>A,C	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs376293687	A>C,G	Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, intron variant
rs386834233	G>A	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs386834234	G>T	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, intron variant
rs398124560	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124561	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124562	G>A	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant, 3 prime UTR variant, intron variant
rs398124571	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124572	AC>-	Uncertain-significance, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs398124573	T>C,G	Pathogenic, likely-pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs398124574	G>A	Pathogenic	Splice acceptor variant
rs398124576	T>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124577	A>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124579	C>T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124581	C>A,G,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124582	A>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124586	CA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398124587	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398124589	G>A,C,T	Pathogenic, likely-pathogenic	Splice donor variant
rs398124592	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs398124593	T>A,C	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124594	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs398124596	T>G	Pathogenic, likely-pathogenic	Splice donor variant
rs398124598	C>T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs398124600	T>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124601	GGCGCGGGGCT>-,GGCGCGGGGCTGGCGCGGGGCT	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs398124602	G>A	Pathogenic	Splice acceptor variant
rs398124603	C>T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs398124604	T>G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs749033513	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs751599203	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, stop gained, coding sequence variant, non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant
rs751953459	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs760538465	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs763645251	C>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs774306610	T>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs774916970	G>T	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs776270090	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs776631396	C>T	Pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs796051939	T>A	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs797045411	A>-	Likely-pathogenic	3 prime UTR variant, genic downstream transcript variant, coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs867612284	T>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs869312126	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs869312127	A>G	Pathogenic	Splice acceptor variant
rs869312128	G>A	Pathogenic	Missense variant, intron variant, initiator codon variant, non coding transcript variant
rs869312129	T>-	Pathogenic	3 prime UTR variant, genic downstream transcript variant, coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs869312130	T>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs869312131	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886043103	A>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs940391887	T>C	Likely-pathogenic	Initiator codon variant, intron variant, missense variant, non coding transcript variant
rs962489830	G>C	Likely-pathogenic	Splice acceptor variant
rs987877790	G>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs994415333	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1005542482	A>G,T	Likely-pathogenic	Initiator codon variant, missense variant, non coding transcript variant, intron variant
rs1057516572	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516731	C>-	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516781	GGCTGCCGGC>-	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516795	CCTGGCGCGGG>-	Pathogenic-likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516799	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057517124	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057517414	CAGAGGCGGCA>-	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1060499715	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant, intron variant, genic downstream transcript variant
rs1064796892	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1085307058	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1131691399	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1167005638	->T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1202365275	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1224101411	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs1380402024	TTGGTGAAGAT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1400121541	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1410520713	->TGAGGGGC	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1554180622	GGTGCTCCGCCCTCCCCGCAGGCGGCGTGCGGCTGCATAGCCTGAGAATCCCGGTGGTGAGCGGGGATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACTGGCGTCGGCTTCCTGGCGCGGGGCTGGCGCGGGGCTTTTTGCACCCCGCCGCGACTGTCGAGGATGCGGCCCAGAGGCGGCAGGTGGCTCATTTTACTTTCCAGCCAGATCCGGAGCCCCGG	Pathogenic	Splice donor variant, upstream transcript variant, non coding transcript variant, initiator codon variant, 5 prime UTR variant, genic upstream transcript variant, intron variant
rs1554181192	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs1554181203	G>C,T	Likely-pathogenic	Splice donor variant, intron variant
rs1554184224	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1554184237	T>G	Likely-pathogenic	Splice donor variant
rs1554189447	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554190322	G>A	Likely-pathogenic	Splice donor variant
rs1554194690	GATGTTACTCTAGT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554205499	A>G	Likely-pathogenic	Splice acceptor variant
rs1554205506	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554205541	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs1582146275	AGAATCCCGGTGGTGAGCGGGGATGG>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, splice donor variant, initiator codon variant, non coding transcript variant, intron variant
rs1582146989	->TTCCTGGCAGGGGCTGAGGA	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, intron variant, stop gained
rs1582275277	A>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001381	hsa-miR-1-3p	pSILAC	18668040
MIRT001381	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT818028	hsa-miR-3152-3p	CLIP-seq
MIRT818029	hsa-miR-338-5p	CLIP-seq
MIRT818030	hsa-miR-3647-3p	CLIP-seq
MIRT818031	hsa-miR-3668	CLIP-seq
MIRT818032	hsa-miR-4666-3p	CLIP-seq
MIRT818033	hsa-miR-4666-5p	CLIP-seq
MIRT818034	hsa-miR-4738-3p	CLIP-seq
MIRT818035	hsa-miR-4766-5p	CLIP-seq
MIRT818036	hsa-miR-1299	CLIP-seq
MIRT818037	hsa-miR-140-5p	CLIP-seq
MIRT818038	hsa-miR-148a	CLIP-seq
MIRT818039	hsa-miR-148b	CLIP-seq
MIRT818040	hsa-miR-152	CLIP-seq
MIRT818041	hsa-miR-203	CLIP-seq
MIRT818042	hsa-miR-223	CLIP-seq
MIRT818043	hsa-miR-25	CLIP-seq
MIRT818044	hsa-miR-27a	CLIP-seq
MIRT818045	hsa-miR-27b	CLIP-seq
MIRT818046	hsa-miR-32	CLIP-seq
MIRT818047	hsa-miR-3545-5p	CLIP-seq
MIRT818048	hsa-miR-3613-3p	CLIP-seq
MIRT818049	hsa-miR-3614-5p	CLIP-seq
MIRT818050	hsa-miR-3617	CLIP-seq
MIRT818051	hsa-miR-363	CLIP-seq
MIRT818052	hsa-miR-3653	CLIP-seq
MIRT818053	hsa-miR-3658	CLIP-seq
MIRT818054	hsa-miR-367	CLIP-seq
MIRT818055	hsa-miR-3672	CLIP-seq
MIRT818056	hsa-miR-371-5p	CLIP-seq
MIRT818057	hsa-miR-371b-5p	CLIP-seq
MIRT818058	hsa-miR-3907	CLIP-seq
MIRT818059	hsa-miR-3913-3p	CLIP-seq
MIRT818060	hsa-miR-4299	CLIP-seq
MIRT818061	hsa-miR-4302	CLIP-seq
MIRT818062	hsa-miR-4418	CLIP-seq
MIRT818063	hsa-miR-4460	CLIP-seq
MIRT818064	hsa-miR-4663	CLIP-seq
MIRT818065	hsa-miR-4682	CLIP-seq
MIRT818066	hsa-miR-4697-3p	CLIP-seq
MIRT818067	hsa-miR-4698	CLIP-seq
MIRT818068	hsa-miR-4782-5p	CLIP-seq
MIRT818069	hsa-miR-4797-5p	CLIP-seq
MIRT818070	hsa-miR-494	CLIP-seq
MIRT818071	hsa-miR-508-5p	CLIP-seq
MIRT818072	hsa-miR-509-3-5p	CLIP-seq
MIRT818073	hsa-miR-509-5p	CLIP-seq
MIRT818074	hsa-miR-513a-5p	CLIP-seq
MIRT818075	hsa-miR-516b	CLIP-seq
MIRT818076	hsa-miR-522	CLIP-seq
MIRT818077	hsa-miR-542-3p	CLIP-seq
MIRT818078	hsa-miR-592	CLIP-seq
MIRT818079	hsa-miR-597	CLIP-seq
MIRT818080	hsa-miR-607	CLIP-seq
MIRT818081	hsa-miR-628-3p	CLIP-seq
MIRT818082	hsa-miR-641	CLIP-seq
MIRT818083	hsa-miR-759	CLIP-seq
MIRT818084	hsa-miR-766	CLIP-seq
MIRT818085	hsa-miR-767-5p	CLIP-seq
MIRT818086	hsa-miR-802	CLIP-seq
MIRT818087	hsa-miR-873	CLIP-seq
MIRT818088	hsa-miR-875-3p	CLIP-seq
MIRT818089	hsa-miR-92a	CLIP-seq
MIRT818090	hsa-miR-92b	CLIP-seq
MIRT1941793	hsa-miR-124	CLIP-seq
MIRT1941794	hsa-miR-1266	CLIP-seq
MIRT1941795	hsa-miR-1827	CLIP-seq
MIRT1941796	hsa-miR-214	CLIP-seq
MIRT1941797	hsa-miR-2467-3p	CLIP-seq
MIRT1941798	hsa-miR-3122	CLIP-seq
MIRT1941799	hsa-miR-3619-5p	CLIP-seq
MIRT1941800	hsa-miR-3689a-3p	CLIP-seq
MIRT1941801	hsa-miR-3689c	CLIP-seq
MIRT1941802	hsa-miR-3714	CLIP-seq
MIRT1941803	hsa-miR-3910	CLIP-seq
MIRT1941804	hsa-miR-3913-5p	CLIP-seq
MIRT1941805	hsa-miR-3975	CLIP-seq
MIRT1941806	hsa-miR-4257	CLIP-seq
MIRT1941807	hsa-miR-4278	CLIP-seq
MIRT1941808	hsa-miR-4291	CLIP-seq
MIRT1941809	hsa-miR-4518	CLIP-seq
MIRT1941810	hsa-miR-4649-3p	CLIP-seq
MIRT1941811	hsa-miR-4690-5p	CLIP-seq
MIRT1941812	hsa-miR-4716-3p	CLIP-seq
MIRT1941813	hsa-miR-4722-5p	CLIP-seq
MIRT1941814	hsa-miR-4723-5p	CLIP-seq
MIRT1941815	hsa-miR-4728-5p	CLIP-seq
MIRT1941816	hsa-miR-4768-3p	CLIP-seq
MIRT1941817	hsa-miR-506	CLIP-seq
MIRT1941818	hsa-miR-510	CLIP-seq
MIRT1941819	hsa-miR-512-5p	CLIP-seq
MIRT1941820	hsa-miR-606	CLIP-seq
MIRT1941821	hsa-miR-761	CLIP-seq
MIRT1941822	hsa-miR-922	CLIP-seq
MIRT1941823	hsa-miR-940	CLIP-seq
MIRT1941793	hsa-miR-124	CLIP-seq
MIRT1941796	hsa-miR-214	CLIP-seq
MIRT1941798	hsa-miR-3122	CLIP-seq
MIRT2444714	hsa-miR-3165	CLIP-seq
MIRT2444715	hsa-miR-338-3p	CLIP-seq
MIRT1941799	hsa-miR-3619-5p	CLIP-seq
MIRT2444716	hsa-miR-3656	CLIP-seq
MIRT2444717	hsa-miR-3665	CLIP-seq
MIRT818055	hsa-miR-3672	CLIP-seq
MIRT1941800	hsa-miR-3689a-3p	CLIP-seq
MIRT1941801	hsa-miR-3689c	CLIP-seq
MIRT1941802	hsa-miR-3714	CLIP-seq
MIRT1941803	hsa-miR-3910	CLIP-seq
MIRT1941804	hsa-miR-3913-5p	CLIP-seq
MIRT1941805	hsa-miR-3975	CLIP-seq
MIRT1941808	hsa-miR-4291	CLIP-seq
MIRT2444718	hsa-miR-4330	CLIP-seq
MIRT2444719	hsa-miR-4530	CLIP-seq
MIRT1941811	hsa-miR-4690-5p	CLIP-seq
MIRT1941815	hsa-miR-4728-5p	CLIP-seq
MIRT2444720	hsa-miR-4733-5p	CLIP-seq
MIRT2444721	hsa-miR-4736	CLIP-seq
MIRT1941817	hsa-miR-506	CLIP-seq
MIRT1941818	hsa-miR-510	CLIP-seq
MIRT1941819	hsa-miR-512-5p	CLIP-seq
MIRT2444722	hsa-miR-566	CLIP-seq
MIRT1941820	hsa-miR-606	CLIP-seq
MIRT1941821	hsa-miR-761	CLIP-seq
MIRT1941822	hsa-miR-922	CLIP-seq
MIRT1941823	hsa-miR-940	CLIP-seq
MIRT1941793	hsa-miR-124	CLIP-seq
MIRT2484108	hsa-miR-1285	CLIP-seq
MIRT1941798	hsa-miR-3122	CLIP-seq
MIRT2484109	hsa-miR-3163	CLIP-seq
MIRT2444714	hsa-miR-3165	CLIP-seq
MIRT2484110	hsa-miR-3187-5p	CLIP-seq
MIRT2444715	hsa-miR-338-3p	CLIP-seq
MIRT818049	hsa-miR-3614-5p	CLIP-seq
MIRT2444716	hsa-miR-3656	CLIP-seq
MIRT2444717	hsa-miR-3665	CLIP-seq
MIRT818055	hsa-miR-3672	CLIP-seq
MIRT1941800	hsa-miR-3689a-3p	CLIP-seq
MIRT1941801	hsa-miR-3689c	CLIP-seq
MIRT1941802	hsa-miR-3714	CLIP-seq
MIRT1941803	hsa-miR-3910	CLIP-seq
MIRT1941804	hsa-miR-3913-5p	CLIP-seq
MIRT2484111	hsa-miR-3945	CLIP-seq
MIRT1941805	hsa-miR-3975	CLIP-seq
MIRT2484112	hsa-miR-4253	CLIP-seq
MIRT2444719	hsa-miR-4530	CLIP-seq
MIRT2484113	hsa-miR-4684-5p	CLIP-seq
MIRT1941815	hsa-miR-4728-5p	CLIP-seq
MIRT2444721	hsa-miR-4736	CLIP-seq
MIRT2484114	hsa-miR-4781-3p	CLIP-seq
MIRT1941817	hsa-miR-506	CLIP-seq
MIRT2484115	hsa-miR-548c-3p	CLIP-seq
MIRT2484116	hsa-miR-612	CLIP-seq
MIRT818087	hsa-miR-873	CLIP-seq
MIRT1941823	hsa-miR-940	CLIP-seq
MIRT1941793	hsa-miR-124	CLIP-seq
MIRT1941798	hsa-miR-3122	CLIP-seq
MIRT2484109	hsa-miR-3163	CLIP-seq
MIRT2444714	hsa-miR-3165	CLIP-seq
MIRT2444715	hsa-miR-338-3p	CLIP-seq
MIRT818049	hsa-miR-3614-5p	CLIP-seq
MIRT2444716	hsa-miR-3656	CLIP-seq
MIRT2444717	hsa-miR-3665	CLIP-seq
MIRT1941800	hsa-miR-3689a-3p	CLIP-seq
MIRT1941801	hsa-miR-3689c	CLIP-seq
MIRT1941802	hsa-miR-3714	CLIP-seq
MIRT1941803	hsa-miR-3910	CLIP-seq
MIRT1941804	hsa-miR-3913-5p	CLIP-seq
MIRT1941805	hsa-miR-3975	CLIP-seq
MIRT2444719	hsa-miR-4530	CLIP-seq
MIRT2484113	hsa-miR-4684-5p	CLIP-seq
MIRT1941815	hsa-miR-4728-5p	CLIP-seq
MIRT2444721	hsa-miR-4736	CLIP-seq
MIRT1941817	hsa-miR-506	CLIP-seq
MIRT2484115	hsa-miR-548c-3p	CLIP-seq
MIRT818087	hsa-miR-873	CLIP-seq
MIRT1941823	hsa-miR-940	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003863	Function	Branched-chain 2-oxo acid dehydrogenase activity	IDA	9582350, 10745006
GO:0003863	Function	Branched-chain 2-oxo acid dehydrogenase activity	IEA
GO:0003863	Function	Branched-chain 2-oxo acid dehydrogenase activity	IMP	2022752
GO:0005515	Function	Protein binding	IPI	10745006, 12902323, 15166214, 15576032, 28514442, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	2022752
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	ISS
GO:0005759	Component	Mitochondrial matrix	NAS	3593587
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007584	Process	Response to nutrient	IBA
GO:0009083	Process	Branched-chain amino acid catabolic process	IBA
GO:0009083	Process	Branched-chain amino acid catabolic process	IDA	3593587
GO:0009083	Process	Branched-chain amino acid catabolic process	IMP	2022752
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0120552	Process	Branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA	IDA	3593587
GO:0120552	Process	Branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA	IMP	10745006
GO:0160157	Component	Branched-chain alpha-ketoacid dehydrogenase complex	IBA
GO:0160157	Component	Branched-chain alpha-ketoacid dehydrogenase complex	IDA	9582350, 10745006
GO:0160157	Component	Branched-chain alpha-ketoacid dehydrogenase complex	IMP	2022752
GO:0160157	Component	Branched-chain alpha-ketoacid dehydrogenase complex	IPI	3593587

MIM	HGNC	e!Ensembl
248611	987	ENSG00000083123

Protein

UniProt ID

P21953

Protein name

2-oxoisovalerate dehydrogenase subunit beta, mitochondrial (EC 1.2.4.4) (Branched-chain alpha-keto acid dehydrogenase E1 component beta chain) (BCKDE1B) (BCKDH E1-beta)

Protein function

Together with BCKDHA forms the heterotetrameric E1 subunit of the mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. The BCKD complex catalyzes the multi-step oxidative decarboxylation of alpha-ketoacids derived from the b

PDB

1DTW , 1OLS , 1OLU , 1OLX , 1U5B , 1V11 , 1V16 , 1V1M , 1V1R , 1WCI , 1X7W , 1X7X , 1X7Y , 1X7Z , 1X80 , 2BEU , 2BEV , 2BEW , 2BFB , 2BFC , 2BFD , 2BFE , 2BFF , 2J9F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02779	Transket_pyr	69 → 247	Transketolase, pyrimidine binding domain	Domain
PF02780	Transketolase_C	261 → 382	Transketolase, C-terminal domain	Domain

Sequence

MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDP
EPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVF
NTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSL
TIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEP
KILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCE
VIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECFLNLEAPISRV
CGYDTPFPHIFEPFYIPDKWKCYDALRKMINY

Sequence length

392

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Maple Syrup Urine Disease	Maple syrup urine disease type 1A, Maple syrup urine disease type 1B, maple syrup urine disease	rs1772747408, rs386834233, rs774916970, rs148905512, rs398124589, rs398124598, rs398124572, rs940391887, rs776631396, rs79761867, rs1167005638, rs398124601, rs371518124, rs1410520713, rs1400121541 View all (69 more)	N/A

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	34951053
Brain Injuries	Associate	28830848
Carcinoma Hepatocellular	Associate	23750246
Fatigue Syndrome Chronic	Associate	33669532
Hypoxia	Associate	17278190
Maple Syrup Urine Disease	Associate	10745006, 11112664, 11448970, 11509994, 14742428, 1885764, 2022752, 2365818, 24268812, 24770567, 28830848, 2914958, 29366676, 30957186, 31830945 View all (10 more)
Maple syrup urine disease type 1B	Associate	11448970
Maple syrup urine disease type 2	Associate	31610500
Muscle Spasticity	Associate	30957186
Neoplasms	Associate	16542696, 34951053, 6480584, 9356351
Ovarian Neoplasms	Associate	25820823
Pyruvate Dehydrogenase Complex Deficiency Disease	Associate	17923481

BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta)