Gene: RARS2

Alternate names for this Gene: ArgRS|DALRD2|PCH6|PRO1992|RARSL

Gene Summary: This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6q15

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

Type of Gene: protein-coding

rs757743894 in RARS2 gene and Pontocerebellar Hypoplasia Type 6 PMID 22086604 2012 Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

PMID 27061686 2016 RARS2 mutations in a sibship with infantile spasms.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs78900282 in RARS2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.