Gene: RARS1

Alternate names for this Gene: ArgRS|DALRD1|HLD9|RARS

Gene Summary: Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family.

Gene is located in Chromosome: 5

Location in Chromosome : 5q34

Description of this Gene: arginyl-tRNA synthetase 1

Type of Gene: protein-coding

rs672601372 in RARS1 gene and Abnormality of brain morphology PMID 24777941 2014 Mutations in RARS cause hypomyelination.

PMID 28905880 2017 Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

rs369398935 in RARS1 gene and LEUKODYSTROPHY, HYPOMYELINATING, 9 PMID 24777941 2014 Mutations in RARS cause hypomyelination.

PMID 28905880 2017 Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.