BCAT2
Function
Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine (PubMed:17050531, PubMed:25653144, PubMed:8702755). May also function as a transporter of branched chain alpha-keto acids (By similarity).
Involvement in disease
Hypervalinemia and hyperleucine-isoleucinemia
HVLI
An autosomal recessive metabolic disorder characterized by highly elevated plasma concentrations of valine and leucine/isoleucine. Affected individuals suffer from headache and mild memory impairment.
None
The disease is caused by variants affecting the gene represented in this entry. A patient with hypervalinemia and hyperleucine-isoleucinemia was identified as compound heterozygote for Gln-170 (inherited from his father) and Lys-264 (inherited from his mother), both variants reduced the catalytic activity of the enzyme. After treatment with vitamin B6, a precursor of pyridoxal 5'-phosphate, a BCAT2 cofactor, the blood levels of branched chain amino acids, especially valine, were decreased and brain lesions were improved.
Sequence Similarities
Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family.
Tissue Specificity
Ubiquitous.
Cellular localization
- Mitochondrion
Alternative names
BCATM, BCT2, ECA40, BCAT2, BCAT(m), Placental protein 18, PP18