Aliases for BCAT2 Gene
External Ids for BCAT2 Gene
Previous HGNC Symbols for BCAT2 Gene
Previous GeneCards Identifiers for BCAT2 Gene
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]
GeneCards Summary for BCAT2 Gene
BCAT2 (Branched Chain Amino Acid Transaminase 2) is a Protein Coding gene. Diseases associated with BCAT2 include Hyperleucine-Isoleucinemia and Maple Syrup Urine Disease, Type Ii. Among its related pathways are Pantothenate and CoA biosynthesis and Glucose / Energy Metabolism. GO annotations related to this gene include branched-chain-amino-acid transaminase activity and L-valine transaminase activity. An important paralog of this gene is BCAT1.
UniProtKB/Swiss-Prot for BCAT2 Gene
Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids.