Recombinant Human Phenylalanine–tRNA ligase, mitochondrial (FARS2)

Uniprot Id

O95363

Target Species

Human

Target Name

FARS2

Target Full Name

Phenylalanine--tRNA ligase, mitochondrial

Target Function

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.

Target Involvement

Combined oxidative phosphorylation deficiency 14 (COXPD14); Spastic paraplegia 77, autosomal recessive (SPG77)

Target Subcellular Location

Mitochondrion matrix. Mitochondrion.

Target Protein Families

Class-II aminoacyl-tRNA synthetase family

Target Synonyms

dJ236A3.1 (phenylalanine tRNA synthetase) ; dJ520B18.2 (FARS1 (phenylalanine tRNA synthetase)) ; FARS1 ; Fars2; HSPC320; Phenylalanine translase; Phenylalanine tRNA ligase 2; mitochondrial ; Phenylalanine tRNA ligase; Phenylalanine tRNA synthetase 1 (mitochondrial); Phenylalanine tRNA synthetase 2 (mitochondrial) ; Phenylalanine--tRNA ligase; Phenylalanyl tRNA synthetase 2; Phenylalanyl-tRNA synthetase; mitochondrial; PheRS; SYFM_HUMAN

Target Background

This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants.