BCKDHB

BCKDHB
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1DTW, 1OLS, 1OLU, 1OLX, 1U5B, 1V11, 1V16, 1V1M, 1V1R, 1WCI, 1X7W, 1X7X, 1X7Y, 1X7Z, 1X80, 2BEU, 2BEV, 2BEW, 2BFB, 2BFC, 2BFD, 2BFE, 2BFF, 2J9F
Identifiers
Aliases	BCKDHB, E1B, dJ279A18.1, BCKDE1B, BCKDH E1-beta, branched chain keto acid dehydrogenase E1, beta polypeptide, branched chain keto acid dehydrogenase E1 subunit beta
External IDs	OMIM: 248611; MGI: 88137; HomoloGene: 39; GeneCards: BCKDHB; OMA:BCKDHB - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	80,346,270 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	84,006,293 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; rectum; ; mucosa of transverse colon; ; Achilles tendon; ; olfactory zone of nasal mucosa; ; ventricular zone; ; popliteal artery; ; tibial arteries; ; body of stomach; ; left ventricle;
	Top expressed in
	left lobe of liver; ; brown adipose tissue; ; white adipose tissue; ; epithelium of stomach; ; myocardium of ventricle; ; interventricular septum; ; plantaris muscle; ; subcutaneous adipose tissue; ; cardiac muscles; ; parotid gland;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	oxidoreductase activity; protein binding; 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity; catalytic activity;
Cellular component	mitochondrial matrix; mitochondrial alpha-ketoglutarate dehydrogenase complex; mitochondrion;
Biological process	metabolism; branched-chain amino acid catabolic process; response to nutrient;
	Sources:Amigo / QuickGO
Orthologs
	594
	12040
	ENSG00000083123
	ENSMUSG00000032263
	P21953
	Q6P3A8
	NM_000056; NM_183050; NM_001318975
	NM_199195; NM_001305935
	NP_000047; NP_001305904; NP_898871
	NP_001292864; NP_954665
	Wikidata
View/Edit Human	View/Edit Mouse

2-Oxoisovalerate dehydrogenase subunit beta, mitochondrial is an enzyme that in humans is encoded by the BCKDHB gene.^[5]

Function

Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2), and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B. Alternative splicing at this locus results in transcript variants with different 3' noncoding regions, but encoding the same isoform.^[5]

References

External links

Human BCKDHB genome location and BCKDHB gene details page in the UCSC Genome Browser.

[5]

[1]

[2]

[3]

[4]

Search

BCKDHB

Contents

Function

References

Further reading

External links