BCKDHB

GENE INFORMATION

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Gene name

BCKDHB

Synonyms

Description

Branched chain keto acid dehydrogenase E1, beta polypeptide (HGNC Symbol)

Entrez gene summary

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, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008]

Chromosome

6

Cytoband

q14.1

Chromosome location (bp)

80106647 - 80346270

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000083123 (version 78.38)

Entrez gene

594

UniProt

P21953 (UniProt - Evidence at protein level)

neXtProt

NX_P21953

Antibodypedia

BCKDHB antibodies
 

PROTEIN VIEW

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BCKDHB-002
 
BCKDHB-004
 
BCKDHB-005
 
BCKDHB-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BCKDHB-002 ENSP00000358775
ENST00000369760
P21953
Show all »
Show » Show » 218 23.5 Yes 0
BCKDHB-004 ENSP00000318351
ENST00000320393
P21953
Show all »
Show » Show » 392 43.1 Yes 0
BCKDHB-005 ENSP00000348880
ENST00000356489
P21953
Show all »
Show » Show » 392 43.1 Yes 0
BCKDHB-201 ENSP00000443564
ENST00000545529
P21953
Show all »
Show » Show » 218 23.5 Yes 0