DARS2 wt Allele

Preferred Label : DARS2 wt Allele;

NCIt synonyms : LBSL; Aspartate tRNA Ligase 2, Mitochondrial Gene; FLJ10514; mtAspRS; MT-ASPRS; ASPRS; Aspartyl-tRNA Synthetase, Mitochondrial Gene; Aspartyl-tRNA Synthetase 2 Gene; Aspartyl-tRNA Synthetase 2, Mitochondrial wt Allele;

NCIt 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.;

NCI Metathesaurus CUI : CL1794298;

GenBank Accession Number : AK022754;

Details

Origin ID

C189076;

UMLS CUI

C5702700;

Automatic exact mappings (from CISMeF team)
- Aspartyl-trna synthetase 1 [OMIM gene]
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [OMIM Phenotype]
OMIM relation
- Aspartyl-trna synthetase 2 [OMIM gene]
See also inter- (CISMeF)
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [ORDO Disease]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Aspartyl-trna synthetase 2 [OMIM gene]
- aspartyl-tRNA synthetase 2, mitochondrial [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Aminoacyl-tRNA Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- RNA Processing [NCIt concept]
- Translation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients