BCKDHA wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human BCKDHA wild-type allele is located in the vicinity of 19q13.2 and is approximately 27 kb in length. This allele, which encodes 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial protein, is involved in the metabolism of branched-chain amino acids. Mutation of the gene is associated with maple syrup urine disease 1A.

**Synonyms:** - 2-Oxoisovalerate Dehydrogenase (Lipoamide) Gene - BCKD, E1-Alpha Subunit Gene - BCKDE1A - Branched Chain Keto Acid Dehydrogenase E1 Alpha Protein Gene - Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha wt Allele - Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide (Maple Syrup Urine Disease) Gene - Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide Gene - Branched-Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide Gene - MSU - MSUD1 - MSUD1A - Maple Syrup Urine Disease Gene - OVD1A