CORIN Chromosome 4

Corin, serine peptidase
4 variants 4 Health Risk

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What This Gene Does
This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologically active atrial natriuretic peptide, a cardiac hormone that regulates blood volume and pressure. This protein may also function as a pro-brain-type natriuretic peptide convertase. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
"Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases"
Locus Type
gene with protein product
Location
4p12
Ensembl
ENSG00000145244
Associated Conditions (8)
Preeclampsia/eclampsia 5
Atrial fibrillation
Cardiomyopathy
Myocardial fibrosis
Hypertensive disorder
familial hypertrophic
30
atrial
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS199972616 Health Risk Conflicting classifications of pathogenicity Preeclampsia/eclampsia 5, Preeclampsia/eclampsia 5
RS387906894 Health Risk Pathogenic Preeclampsia/eclampsia 5, Preeclampsia/eclampsia 5
RS387906895 Health Risk Pathogenic Preeclampsia/eclampsia 5, Preeclampsia/eclampsia 5
RS756399499 Health Risk Pathogenic Atrial fibrillation, Cardiomyopathy, Myocardial fibrosis
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