DISEASES

Disease-gene associations mined from literature

Literature associating FARS2 and chromosome 6pter-p24 deletion syndrome

FARS2 [ENSP00000316335]

phenylalanyl-tRNA synthetase 2, 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,  O95363,  Q5JRF7 ...

Linkouts:  STRING  Pharos  UniProt