BCAT1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human BCAT1 wild-type allele is located in the vicinity of 12p12.1 and is approximately 139 kb in length. This allele, which encodes branched-chain-amino-acid aminotransferase, cytosolic protein, plays a role in the catabolism of branched-chain amino acids. Mutation of the gene is associated with hypervalinemia and hyperleucine-isoleucinemia.

**Synonyms:** - BCT1 - Branched Chain Amino Acid Transaminase 1 wt Allele - Branched Chain Aminotransferase 1, Cytosolic Gene - ECA39 - MECA39 - PNAS121 - PP18