AARS1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human AARS1 wild-type allele is located in the vicinity of 16q22.1 and is approximately 38 kb in length. This allele, which encodes alanine-tRNA ligase, cytoplasmic protein, is involved in the synthesis of alanyl-tRNA. Mutations in the gene are associated with hereditary diffuse leukoencephalopathy with spheroids 2, axonal Charcot-Marie-Tooth disease type 2N, developmental and epileptic encephalopathy 29 and nonphotosensitive trichothiodystrophy 8.

**Synonyms:** - AARS - ALARS - Alanine tRNA Ligase 1, Cytoplasmic Gene - Alanyl-tRNA Synthetase 1 wt Allele - Alanyl-tRNA Synthetase, Cytoplasmic Gene - CMT2N - DEE29 - EIEE29 - HDLS2 - TTD8