BCKDHA

GENE INFORMATION

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Gene name

BCKDHA (HGNC Symbol)

Synonyms

MSU, OVD1A

Description

branched chain keto acid dehydrogenase E1, alpha polypeptide (HGNC Symbol)

Entrez gene summary

The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

Chromosome

19 (Chromosome progress)

Cytoband

q13.2

Chromosome location (bp)

41856758 - 41930910

Ensembl

ENSG00000248098 (version 73.37)

Entrez gene

593

UniProt

P12694 (UniProt - Evidence at protein level)

neXtProt

NX_P12694

Antibodypedia

BCKDHA antibodies
 

PROTEIN VIEW

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BCKDHA-001
 
BCKDHA-002
 
BCKDHA-004
 
BCKDHA-006
 
BCKDHA-007
 
BCKDHA-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)

BCKDHA-001 ENSP00000269980
ENST00000269980
P12694
Show all »
Show » Show » 445 50.5 No 0
BCKDHA-002 ENSP00000416000
ENST00000457836
B4DP47
Show all »
Show » Show » 448 50.8 No 0
BCKDHA-004 ENSP00000445809
ENST00000541315
Show » Show » 211 23.1 No 0
BCKDHA-006 ENSP00000445727
ENST00000544905
94 10.1 No 0
BCKDHA-007 ENSP00000440345
ENST00000542943
F5GXU9
Show all »
Show » Show » 328 36.2 No 0
BCKDHA-201 ENSP00000471150
ENST00000595085
F5H5P2
Show all »
Show » Show » 479 54.2 No 0