ELAC2 wt Allele

Preferred Label : ELAC2 wt Allele;

NCIt synonyms : ElaC (E. coli) Homolog 2 Gene; ElaC Homolog 2 (E. coli) Gene; FLJ10530; ELC2; HPC2; ElaC Ribonuclease Z 2 wt Allele; COXPD17; ELAC, E. coli, Homolog of, 2 Gene;

NCIt definition : Human ELAC2 wild-type allele is located in the vicinity of 17p11.2 and is approximately 27 kb in length. This allele, which encodes zinc phosphodiesterase ELAC protein 2, is involved in tRNA maturation. Mutation of the gene is associated with combined oxidative phosphorylation deficiency 17 and susceptibility to hereditary prostate cancer 2.;

GenBank Accession Number : AF304370;

Details

Origin ID

C113286;

UMLS CUI

C3811845;

Automatic exact mappings (from CISMeF team)
- Combined oxidative phosphorylation defect type 17 [ORDO Disease]
- Elac ribonuclease z 2 [OMIM gene]
- Pontocerebellar hypoplasia type 2 [ORDO Disease]
- Prostate cancer, hereditary, 2 [OMIM Phenotype]
- combined oxidative phosphorylation deficiency 17 [DO Concept]
- elaC ribonuclease Z 2 [ORDO Gene]
OMIM relation
- Elac ribonuclease z 2 [OMIM gene]
See also inter- (CISMeF)
- Combined oxidative phosphorylation deficiency 17 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p11.2 [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- RNA Processing [NCIt concept]

Keyword's position in hierarchy(ies) :

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