COX6A2 wt Allele

Preferred Label : COX6A2 wt Allele;

NCIt synonyms : MC4DN18; COX6AH; Cytochrome C Oxidase, Subunit 6A2 Gene; Cytochrome C Oxidase Subunit VIa, Polypeptide 2 Gene; COXVIAH; Cytochrome C Oxidase Subunit 6A2 wt Allele;

NCIt definition : Human COX6A2 wild-type allele is located in the vicinity of 16p11.2 and is approximately 630 kb in length. This allele, which encodes cytochrome c oxidase subunit 6A2, mitochondrial protein, plays a role in the stabilization of mitochondrial complex IV (COX) in muscle cells. Mutation of the gene is associated with muscle-specific mitochondrial complex IV deficiency nuclear type 18.;

NCI Metathesaurus CUI : CL1663676;

GenBank Accession Number : U66875;

Details

Origin ID

C181125;

UMLS CUI

C5551160;

OMIM relation
- Cytochrome C oxidase, subunit 6a2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16p11.2 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Amyotrophic Lateral Sclerosis Pathway [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]
- Prion Disease Pathway [NCIt concept]
gene_plays_role_in_process
- Energy Metabolism Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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