Literature associating FARS2 and Noonan syndrome 5
FARS2 [ENSP00000316335]
Phenylalanine--tRNA ligase, mitochondrial; Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins; Belongs to the class-II aminoacyl-tRNA synthetase family.
Synonyms: FARS2, FARS2p, hFARS2, A0A3B3ITR6, O95363 ...