KARS1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human KARS1 wild-type allele is located in the vicinity of 16q23.1 and is approximately 21 kb in length. This allele, which encodes lysine-tRNA ligase protein, plays a role in the synthesis of lysyl-tRNA. Mutations in the gene are associated with infantile-onset progressive leukoencephalopathy with or without deafness (LEPID), recessive intermediate Charcot-Marie-Tooth disease type B, autosomal recessive deafness 89 and congenital deafness with adult-onset progressive leukoencephalopathy (DEAPLE).

**Synonyms:** - CMTRIB - DEAPLE - DFNB89 - Deafness, Autosomal Recessive 89 Gene - KARS - KARS2 - KIAA0070 - KRS - LEPID - Lysine tRNA Ligase Gene - Lysyl-tRNA Synthetase 1 wt Allele - Lysyl-tRNA Synthetase Gene