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GENE - TERM ANNOTATION REPORT

RGD ID: 2502
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cyb5r3
Name: cytochrome b5 reductase 3
Acc ID: DOID:10783
Term: methemoglobinemia
Definition: The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)
Definition Source(s): MESH:D008708
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)
Cyb5r3 ISOCYB5R3 (Homo sapiens)1599771RGDDNA:point mutations, splice-site mutation: ;535G>A, 757G>A, 379A>G, IVS4-2A>G 
Cyb5r3 ISOCYB5R3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:16469290
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