SERPIND1 Chromosome 22
Serpin family D member 1
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What This Gene Does
This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000099937
Associated Conditions (3)
SERPIND1-related disorder
Hemorrhage
Heparin cofactor II deficiency
Key Variants
RS145370736
Conflicting classifications of pathogenicity
SERPIND1-related disorder, SERPIND1-related disorder
Health Risk
RS202123183
Conflicting classifications of pathogenicity
Health Risk
RS2518225484
Likely pathogenic
Hemorrhage, Hemorrhage
Health Risk
RS121912420
Pathogenic
Heparin cofactor II deficiency, Heparin cofactor II deficiency
Health Risk
RS587777759
Pathogenic
Heparin cofactor II deficiency, Heparin cofactor II deficiency
Health Risk
RS587777760
Pathogenic
Heparin cofactor II deficiency, Heparin cofactor II deficiency
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145370736 | Health Risk | Conflicting classifications of pathogenicity | SERPIND1-related disorder, SERPIND1-related disorder |
| RS202123183 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2518225484 | Health Risk | Likely pathogenic | Hemorrhage, Hemorrhage |
| RS121912420 | Health Risk | Pathogenic | Heparin cofactor II deficiency, Heparin cofactor II deficiency |
| RS587777759 | Health Risk | Pathogenic | Heparin cofactor II deficiency, Heparin cofactor II deficiency |
| RS587777760 | Health Risk | Pathogenic | Heparin cofactor II deficiency, Heparin cofactor II deficiency |