HARS1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HARS1 wild-type allele is located in the vicinity of 5q31.3 and is approximately 19 kb in length. This allele, which encodes histidine-tRNA ligase, cytoplasmic protein, is involved in tRNA aminoacylation. Mutation of the gene is associated with axonal Charcot-Marie-Tooth disease type 2W and Usher syndrome type 3B.

**Synonyms:** - CMT2W - HARS - HRS - Histidine Translase Gene - Histidine tRNA Ligase 1, Cytoplasmic Gene - Histidyl-tRNA Synthetase 1 wt Allele - Histidyl-tRNA Synthetase Gene - Jo-1 Antigen Gene - USH3B - Usher Syndrome 3B Gene