Literature associating BCAT2 and Neu-Laxova syndrome 2
BCAT2 [ENSP00000322991]
Branched-chain-amino-acid aminotransferase, mitochondrial; 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.
Synonyms: BCAT2, BCAT2p, hBCAT2, B3KSI3, M0QXF9 ...