BCKDHB wt Allele

**Semantic type:** Gene or Genome

**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.

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