AARS2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human AARS2 wild-type allele is located in the vicinity of 6p21.1 and is approximately 15 kb in length. This allele, which encodes alanine-tRNA ligase, mitochondrial protein, is involved in the synthesis of tRNA(Ala). Mutation of the gene is associated with both combined oxidative phosphorylation deficiency 8 and progressive leukoencephalopathy with ovarian failure.

**Synonyms:** - AARSL - Alanyl tRNA Ligase 2, Mitochondrial Gene - Alanyl tRNA Synthetase Like Gene - Alanyl-tRNA Synthetase 2, Mitochondrial wt Allele - COXPD8 - KIAA1270 - LKENP - MT-ALARS - MTALARS - bA444E17.1