BCAT1, Official Symbol BCAT1provided by HGNC Official Full Name branched chain amino acid transaminase 1provided by HGNC Primary source HGNC:HGNC:976 See related Ensembl:ENSG00000060982 MIM:113520; AllianceGenome:HGNC:976 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BCT1; PP18; BCATC; ECA39; MECA39; PNAS121 Summary 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] Expression Broad expression in placenta (RPKM 7.3), pancreas (RPKM 6.7) and 22 other tissues See more Orthologs mouse all