DISEASES

Disease-gene associations mined from literature

Literature associating FARS2 and Alpers-Huttenlocher syndrome

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 ...

Linkouts:  STRING  Pharos  UniProt