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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).
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