{"symbol":"BCAT1","synonyms":["MECA39","BCATC","PP18","BCT1","PNAS121","ECA39"],"name":"branched chain amino-acid transaminase 1, cytosolic","description":"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]","ncbiEntrezGeneId":586,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/586","proteins":[{"symbol":"BCAT1_HUMAN","href":"/api/1.0/protein/BCAT1_HUMAN"}],"hgncRootFamilies":[]}