Rabbit anti-Human BCKDHA Polyclonal Antibody

Uniprot Id

P12694

Target Species

Human

Target Name

BCKDHA

Target Full Name

2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial

Target Function

The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).

Target Involvement

Maple syrup urine disease 1A (MSUD1A)

Target Subcellular Location

Mitochondrion matrix.

Target Protein Families

BCKDHA family

Target Synonyms

Branched chain alpha keto acid dehydrogenase E1 component alpha polypeptide; FLJ45695; OVD1A; 2 oxoisovalerate dehydrogenase (lipoamide); 2 oxoisovalerate dehydrogenase subunit alpha, mitochondrial ; 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; BCKDE1A; BCKDH E1 alpha; BCKDH E1-alpha; BCKDHA; Branched chain alpha keto acid dehydrogenase E1 component alpha chain; Branched chain keto acid dehydrogenase E1 alpha polypeptide; Branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease); Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain; MSU; MSUD1; ODBA_HUMAN

Target Background

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.