BCKDHA

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]

Description

Branched chain keto acid dehydrogenase E1 subunit alpha

Tissue specificity

Low tissue specificity

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

19 (41397808 - 41425002)

Ensembl ID

ENSG00000248098  (ver. 103.38)

Orthologs

-

UniProt

P12694

neXtProt

NX_P12694

Human splice variants

Protein structure