BCAT1
Description
The BCAT1 (branched chain amino acid transaminase 1) is a protein-coding gene located on chromosome 12.
BCAT1, the gene encoding branched-chain amino acid transaminase 1, plays a crucial role in the metabolism of branched-chain amino acids (BCAAs). It is responsible for the reversible transamination of BCAAs and glutamate, acting as the first enzyme in the BCAA degradation pathway. BCAT1 is located in the cytoplasm, while its mitochondrial isoform is known as BCAT2. The enzyme facilitates the deamination of BCAAs, converting them into branched-chain alpha-keto acids (BCKAs), which can be further broken down by the branched-chain keto acid dehydrogenase complex. The reaction involves the transfer of an amino group from a BCAA to α-ketoglutarate, resulting in the formation of glutamate and the corresponding BCKA. BCAT1 expression is often regulated by the oncogenic transcription factor Myc. Defects in BCAT1 activity have been linked to two clinical disorders: hypervalinemia and hyperleucine-isoleucinemia.
BCAT1 is also known as BCATC, BCT1, ECA39, MECA39, PNAS121, PP18.
