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GENE - TERM ANNOTATION REPORT

RGD ID: 1562079
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sdhaf1
Name: succinate dehydrogenase complex assembly factor 1
Acc ID: DOID:0060537
Term: mitochondrial complex II deficiency
Definition: A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23322652 "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)
Sdhaf1 ISOSDHAF1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Succinate CoQ reductase deficiencyPMID:25741868 PMID:26642834 PMID:26749241 PMID:28492532 PMID:33162331
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