MT-CO1 wt Allele

Preferred Label : MT-CO1 wt Allele;

NCIt synonyms : Complex IV, Cytochrome c Oxidase Subunit I Gene; COXI; COI; MTCO1; Mitochondrially Encoded Cytochrome C Oxidase I wt Allele; COX1;

NCIt definition : Human MT-CO1 wild-type allele is located within the circular mitochondrial (MT) chromosome and is approximately 1 kb in length. This allele, which encodes cytochrome c oxidase subunit 1, is involved in positive regulation of the mitochondrial electron transport chain. Allelic variation of the gene is associated with Leber hereditary optic neuropathy (LHON). Mutation of the gene is associated with mitochondrial complex IV deficiency (MT-C4D), recurrent mitochondrial myoglobinuria, and mitochondrially inherited nonsyndromic sensorineural deafness. Mutations may also be associated with colorectal cancer.;

NCI Metathesaurus CUI : CL512371;

GenBank Accession Number : YP_003024028;

Details

Origin ID

C128942;

UMLS CUI

C4284183;

Automatic exact mappings (from CISMeF team)
- Coloboma, ocular, autosomal dominant [OMIM Phenotype]
- Complex Iv, cytochrome C oxidase subunit I [OMIM gene]
- Coxi (qualifier value) [SNOMED CT concept]
- Prostaglandin-endoperoxide synthase 1 [OMIM gene]
- cyclooxygenase 1 [MeSH Descriptor]
- mitochondrially encoded cytochrome c oxidase I [ORDO Gene]
OMIM relation
- Complex Iv, cytochrome C oxidase subunit I [OMIM gene]
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_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Cardiac Muscle Contraction Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Oxidative Phosphorylation Pathway [NCIt concept]
- Parkinson's Disease Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Cell Respiration [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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