C189076Level 5
DARS2 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human DARS2 wild-type allele is located in the vicinity of 1q25.1 and is approximately 34 kb in length. This allele, which encodes aspartate-tRNA ligase, mitochondrial protein, is involved in mitochondrial production of aspartyl-tRNA. Loss of function mutations in the gene are associated with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
**Synonyms:** - ASPRS - Aspartate tRNA Ligase 2, Mitochondrial Gene - Aspartyl-tRNA Synthetase 2 Gene - Aspartyl-tRNA Synthetase 2, Mitochondrial wt Allele - Aspartyl-tRNA Synthetase, Mitochondrial Gene - FLJ10514 - LBSL - MT-ASPRS - mtAspRS
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Cross-system equivalences0
No cross-system equivalences mapped for this node.