AARS2 wt Allele

Preferred Label : AARS2 wt Allele;

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

NCIt 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.;

NCI Metathesaurus CUI : CL1798985;

GenBank Accession Number : AB033096;

Details

Origin ID

C190306;

UMLS CUI

C5780763;

Automatic exact mappings (from CISMeF team)
- Combined oxidative phosphorylation defect type 8 [ORDO Disease]
- Combined oxidative phosphorylation deficiency 8 [OMIM Phenotype]
- Leukoencephalopathy, progressive, with ovarian failure [OMIM Phenotype]
- combined oxidative phosphorylation deficiency 8 [DO Concept]
OMIM relation
- Alanyl-trna synthetase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Alanyl-trna synthetase 2 [OMIM gene]
- alanyl-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) :

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