TARS1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TARS1 wild-type allele is located in the vicinity of 5p13.3 and is approximately 29 kb in length. This allele, which encodes threonine-tRNA ligase 1, cytoplasmic protein, plays a role in tRNA aminoacylation. Mutation of the gene is associated with nonphotosensitive trichothiodystrophy (trichothiodystrophy 7).

**Synonyms:** - TARS - TTD7 - ThrRS - Threonine tRNA Ligase 1, Cytoplasmic Gene - Threonyl tRNA Synthetase, Cytoplasmic Gene - Threonyl-tRNA Synthetase 1 wt Allele