Gene: PARS2

Alternate names for this Gene: EIEE75|MT-PRORS|proRS

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p32.3

Description of this Gene: prolyl-tRNA synthetase 2, mitochondrial

Type of Gene: protein-coding

rs1180949 in PARS2 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1553183771 in PARS2 gene and Muscle hypotonia PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 25385316 2015 Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

PMID 25629079 2015 Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.

PMID 28077841 2017 PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.

PMID 24639874 2014 The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

PMID 15779907 2005 Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.

rs1180949 in PARS2 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.