" /> BCKDHA wt Allele - CISMeF





Preferred Label : BCKDHA wt Allele;

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

NCIt 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.;

GenBank Accession Number : J04474;

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28/07/2025


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