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GENE - TERM ANNOTATION REPORT

RGD ID: 1304719
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Coa8
Name: cytochrome c oxidase assembly factor 8
Acc ID: DOID:3762
Term: cytochrome-c oxidase deficiency disease
Definition: A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders "DO" "DO", https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26846578 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Coa8 ISOCOA8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: COX deficiencyPMID:25175347 PMID:25741868 PMID:28492532
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