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GENE - TERM ANNOTATION REPORT

RGD ID: 12484473
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Ndufb3
Name: NADH:ubiquinone oxidoreductase subunit B3
Acc ID: DOID:0060536
Term: mitochondrial complex I deficiency
Definition: A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. (DO)
Definition Source(s): http://www.omim.org/entry/252010 "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)
Ndufb3 ISONDUFB3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial complex I deficiencyPMID:22277967 PMID:22499348 PMID:25741868 PMID:26467025 PMID:27091925 PMID:28492532 PMID:31000363
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