Gene Symbol | BCAT2 |
Entrez Gene ID | 587 |
Full Name | branched chain amino acid transaminase 2 |
Synonyms | BCAM,BCATM,BCT2,PP18 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. |
Disorder MIM: | |
Disorder Html: | ?Hypervalinemia or hyperleucine-isoleucinemia (1) |