TARS1 Chromosome 5
Threonyl-tRNA synthetase 1
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What This Gene Does
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. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
5p13.3
Ensembl
ENSG00000113407
Associated Conditions (2)
Trichothiodystrophy 7
nonphotosensitive
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1579584983 | Health Risk | Pathogenic | Trichothiodystrophy 7, nonphotosensitive, Trichothiodystrophy 7 |
| RS1579585658 | Health Risk | Pathogenic | Trichothiodystrophy 7, nonphotosensitive, Trichothiodystrophy 7 |
| RS749888012 | Health Risk | Pathogenic | Trichothiodystrophy 7, nonphotosensitive, Trichothiodystrophy 7 |