Gene Symbol | BCAT1 |
Entrez Gene ID | 586 |
Full Name | branched chain amino acid transaminase 1 |
Synonyms | BCATC,BCT1,ECA39,MECA39,PNAS121,PP18 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | ?Hyperleucinemia-isoleucinemia or hypervalinemia (1) |