Aliases for BCAT1 Gene
External Ids for BCAT1 Gene
Previous HGNC Symbols for BCAT1 Gene
Previous GeneCards Identifiers 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) is a Protein Coding gene. Diseases associated with BCAT1 include Hyperleucine-Isoleucinemia and Pediatric Ependymoma. Among its related pathways are Pantothenate and CoA biosynthesis and Validated targets of C-MYC transcriptional activation. GO annotations related to this gene include identical protein binding and L-leucine 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.