" /> BCKDHB wt Allele - CISMeF





Preferred Label : BCKDHB wt Allele;

NCIt synonyms : E1b-Beta Subunit of the Branched-Chain Complex Gene; OVD1B; Branched Chain Alpha-Ketoacid Dehydrogenase E1-Beta Subunit Gene; Branched-Chain Keto Acid Dehydrogenase E1, Beta Polypeptide Gene; Branched Chain Keto Acid Dehydrogenase E1 Beta Gene; E1B; 2-Oxoisovalerate Dehydrogenase (Lipoamide) Gene; Maple Syrup Urine Disease Gene; Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide (Maple Syrup Urine Disease) Gene; BCKD, E1-Beta Subunit Gene; Branched Chain Keto Acid Dehydrogenase E1 Beta Protein Gene; BCKDE1B; Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta wt Allele; Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide Gene; MSUD1B; Testis Secretory Sperm-Binding Protein Li 240mP Gene;

NCIt definition : Human BCKDHB wild-type allele is located in the vicinity of 6q14.1 and is approximately 360 kb in length. This allele, which encodes 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial protein, plays a role in the decarboxylation of alpha-ketoacids. Mutation of the gene is associated with maple syrup urine disease 1B.;

GenBank Accession Number : M55575;

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28/07/2025


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