ECA39 Antibody – Rabbit Polyclonal

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. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]

BCAT1: Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Amino Acid Metabolism - valine, leucine and isoleucine biosynthesis; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Cofactor and Vitamin Metabolism - pantothenate and CoA biosynthesis; EC 2.6.1.42; Transferase

Chromosomal Location of Human Ortholog: 12p12.1

Cellular Component: cytosol; mitochondrion

Molecular Function: branched-chain-amino-acid transaminase activity; pyridoxal phosphate binding

Biological Process: aspartate biosynthetic process; branched chain family amino acid biosynthetic process; branched chain family amino acid catabolic process; cell proliferation; G1/S transition of mitotic cell cycle; leucine biosynthetic process; valine biosynthetic process