" /> DBT wt Allele - CISMeF





Preferred Label : DBT wt Allele;

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

NCIt 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.;

GenBank Accession Number : BC016675;

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28/07/2025


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