PARS2

This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]

Description

Prolyl-tRNA synthetase 2, mitochondrial

Tissue specificity

Low tissue specificity

Subcell location

Nucleoli fibrillar center, Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (54756898 - 54764523)

Ensembl ID

ENSG00000162396  (ver. 103.38)

Orthologs

Mouse Pars2: ENSMUSG00000043572

UniProt

Q7L3T8

neXtProt

NX_Q7L3T8

Human splice variants
Mouse splice variants

Protein structure