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GENE - TERM ANNOTATION REPORT

RGD ID: 621239
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mt-atp6
Name: mitochondrially encoded ATP synthase membrane subunit 6
Acc ID: DOID:0111184
Term: myopathy, lactic acidosis, and sideroblastic anemia 3
Definition: A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25037980 "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)
Mt-atp6 ISOMT-ATP6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3PMID:25037980 PMID:27812026 PMID:29350304
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