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GENE - TERM ANNOTATION REPORT

RGD ID: 736494
Species: Homo sapiens
RGD Object: Gene
Symbol: CYP11B2
Name: cytochrome P450 family 11 subfamily B member 2
Acc ID: DOID:9005658
Term: Hypoaldosteronism
Definition: A congenital or acquired condition of insufficient production of ALDOSTERONE by the ADRENAL CORTEX leading to diminished aldosterone-mediated synthesis of Na(+)-K(+)-EXCHANGING ATPASE in renal tubular cells. Clinical symptoms include HYPERKALEMIA, sodium-wasting, HYPOTENSION, and sometimes metabolic ACIDOSIS.
Definition Source(s): MESH:D006994
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)
CYP11B2 IAGP 1600824RGDCMO II deficiency, OMIM:610600; protein:missense mutations:cds:p.R181W, p.V386A (human) 
CYP11B2 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:11238478
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