BCAT1

This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. [provided by RefSeq]

branched chain aminotransferase 1, cytosolic

Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine.

Branched-chain amino acid biosynthetic process Source: ProtInc
Branched-chain amino acid catabolic process Source: Reactome
G1/S transition of mitotic cell cycle Source: ProtInc
Leucine biosynthetic process Source: GO_Central
Valine biosynthetic process Source: GO_Central

Cytoplasm