CARS2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CARS2 wild-type allele is located in the vicinity of 13q34 and is approximately 72 kb in length. This allele, which encodes cysteine-tRNA ligase, mitochondrial protein, plays a role in the synthesis of cysteinyl-tRNA(Cys) in the mitochondrion. Mutation of the gene is associated with combined oxidative phosphorylation deficiency 27.

**Synonyms:** - COXPD27 - CYSRS - CysRS - Cysteine tRNA Ligase 2, Mitochondrial Gene - Cysteinyl-tRNA Synthetase 2 Gene - Cysteinyl-tRNA Synthetase 2, Mitochondrial wt Allele - Cysteinyl-tRNA Synthetase, Mitochondrial Gene - FLJ12118 - OK/SW-cl.10