NP_001158255.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
50,471 Da
NCBI Official Full Name
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 2
NCBI Official Synonym Full Names
branched chain keto acid dehydrogenase E1, alpha polypeptide
NCBI Protein Information
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; BCKDH E1-alpha; 2-oxoisovalerate dehydrogenase (lipoamide); branched-chain alpha-keto acid dehydrogenase E1 component alpha chain
UniProt Protein Name
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
UniProt Synonym Protein Names
Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain; BCKDE1A; BCKDH E1-alpha
UniProt Synonym Gene Names
UniProt Entry Name
ODBA_HUMAN
NCBI Summary for 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]
UniProt Comments for BCKDHA
BCKDH E1-alpha: branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease). Catalyzes the first irreversible and rate-limiting step in leucine oxidation. Its activity is inhibited by serine phosphorylation
Protein type: Amino Acid Metabolism - valine, leucine and isoleucine degradation; Lyase; EC 1.2.4.4; Oxidoreductase; Mitochondrial
Chromosomal Location of Human Ortholog: 19q13.1-q13.2
Cellular Component: mitochondrion; mitochondrial alpha-ketoglutarate dehydrogenase complex; mitochondrial matrix
Molecular Function: protein binding; alpha-ketoacid dehydrogenase activity; metal ion binding; carboxy-lyase activity; 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
Biological Process: branched chain family amino acid catabolic process
Disease: Maple Syrup Urine Disease
Research Articles on BCKDHA
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Products associated with BCKDHA elisa kit
Pathways associated with BCKDHA elisa kit
Diseases associated with BCKDHA elisa kit
Organs/Tissues associated with BCKDHA elisa kit
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