IARS1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human IARS1 wild-type allele is located in the vicinity of 9q22.31 and is approximately 84 kb in length. This allele, which encodes isoleucine-tRNA ligase, cytoplasmic protein, plays a role in the synthesis of isoleucyl-tRNA. Mutations in the gene are associated with growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH).

**Synonyms:** - GRIDHH - IARS - ILERS - ILRS - IRS - Isoleucine tRNA Ligase 1, Cytoplasmic Gene - Isoleucyl-tRNA Synthetase 1 wt Allele - Isoleucyl-tRNA Synthetase, Cytoplasmic Gene - PRO0785