OPA1 wt Allele

Preferred Label : OPA1 wt Allele;

NCIt synonyms : largeG; OPA1, Mitochondrial Dynamin Like GTPase Gene; Optic Atrophy 1 (Autosomal Dominant) Gene; BERHS; MGM1; OPA1 Mitochondrial Dynamin Like GTPase wt Allele; NTG; OPA1 Mitochondrial Dynamin-Like GTPase Gene; MTDPS14; KIAA0567; NPG; FLJ12460;

NCIt definition : Human OPA1 wild-type allele is located in the vicinity of 3q29 and is approximately 105 kb in length. This allele, which encodes dynamin-like 120 kDa protein, mitochondrial, is involved in the regulation of fusion and fission of mitochondria. Mutations in this gene are associated with optic atrophy type 1, mitochondrial DNA depletion syndrome 14 and Behr syndrome.;

NCI Metathesaurus CUI : CL1779125;

GenBank Accession Number : AB011139;

Details

Origin ID

C186734;

UMLS CUI

C5575300;

Automatic exact mappings (from CISMeF team)
- Glaucoma, normal tension, susceptibility to [OMIM Phenotype]
- Mitochondrial dna depletion syndrome 14 (cardioencephalomyopathic type) [OMIM Phenotype]
- OPA1 mitochondrial dynamin like GTPase [ORDO Gene]
- Opa1 mitochondrial dynamin-like gtpase [OMIM gene]
OMIM relation
- Opa1 mitochondrial dynamin-like gtpase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3q29 [NCIt concept]
gene_plays_role_in_process
- Cellular Process [NCIt concept]
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Negative Regulation of Apoptosis [NCIt concept]

Keyword's position in hierarchy(ies) :

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