DBT wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human DBT wild-type allele is located in the vicinity of 1p21.2 and is approximately 63 kb in length. This allele, which encodes lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial protein, plays a role in branched-chain alpha-keto acid dehydrogenase activity. Mutations in the gene are associated with maple syrup urine disease 2.

**Synonyms:** - BCATE2 - BCKAD E2 Subunit Gene - BCKAD-E2 - BCKADE2 - BCKDH-E2 - BCKDHE2 - BCOADC-E2 - Branched Chain Acyltransferase, E2 Component Gene - Branched-Chain Acyltransferase, E2 Component Gene - Branched-Chain Keto Acid Dehydrogenase Complex, E2 Component Gene - Dihydrolipoamide Branched Chain Transacylase (E2 Component of Branched Chain Keto Acid Dehydrogenase Complex; Maple Syrup Urine Disease) Gene - Dihydrolipoamide Branched Chain Transacylase E2 wt Allele - E2 - E2 Component of Branched Chain Alpha-Keto Acid Dehydrogenase Complex Gene - E2B - Lipoamide Acyltransferase Component of Mitochondrial Branched-Chain Alpha-Keto Acid Dehydrogenase Complex Gene - Mitochondrial Branched Chain Alpha-Keto Acid Dehydrogenase Transacylase Subunit (E2b) Gene