Aliases for BCAT1 Gene
External Ids for BCAT1 Gene
Previous Symbols for BCAT1 Gene
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]
GeneCards Summary for BCAT1 Gene
BCAT1 (Branched Chain Amino-Acid Transaminase 1, Cytosolic) is a Protein Coding gene. Diseases associated with BCAT1 include hyperleucine-isoleucinemia. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include identical protein binding and L-valine transaminase activity. An important paralog of this gene is BCAT2.
UniProtKB/Swiss-Prot for BCAT1 Gene
Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine