GFM1 wt Allele

Preferred Label : GFM1 wt Allele;

NCIt synonyms : EGF1; GFM; mtEF-G1; Mitochondrial Elongation Factor G1 Gene; G Translation Elongation Factor, Mitochondrial Gene; COXPD1; hEFG1; G Elongation Factor Mitochondrial 1 wt Allele; EFG; EFGM; Mitochondrial Elongation Factor G Gene; EFG1;

NCIt definition : Human GFM1 wild-type allele is located in the vicinity of 3q25.32 and is approximately 51 kb in length. This allele, which encodes elongation factor G, mitochondrial protein, plays a role in mitochondrial protein translation. Loss of function mutations in the gene are associated with combined oxidative phosphorylation deficiency 1.;

NCI Metathesaurus CUI : CL1799026;

GenBank Accession Number : AF309777;

Details

Origin ID

C190292;

UMLS CUI

C5780783;

OMIM relation
- Mitochondrial elongation factor g1 [OMIM gene]
See also inter- (CISMeF)
- Combined oxidative phosphorylation deficiency 1 [OMIM Phenotype]
- Combined oxidative phosphorylation deficiency type 1 [ICD-11 More detail]
- combined oxidative phosphorylation deficiency 1 [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 1 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- G elongation factor mitochondrial 1 [ORDO Gene]
- Mitochondrial elongation factor g1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Translation Process [NCIt concept]
- Translational Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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