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protein C deficiency
Summary
- Definition
- A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.
- Super Class
- autosomal dominant disease thrombophilia
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4153 | MBL2 | mannose binding lectin 2 | |
| 4247 | MGAT2 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | |
| 4351 | MPI | mannose phosphate isomerase | |
| 5091 | PC | pyruvate carboxylase | |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A | |
| 5373 | PMM2 | phosphomannomutase 2 | |
| 5507 | PPP1R3C | protein phosphatase 1 regulatory subunit 3C | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6319 | SCD | stearoyl-CoA desaturase | |
| 6382 | SDC1 | syndecan 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00767 | Stearoyl-CoA desaturase | |
| O15305 | Phosphomannomutase 2 | |
| O60762 | Dolichol-phosphate mannosyltransferase subunit 1 | |
| P06280 | Alpha-galactosidase A | |
| P06731 | Carcinoembryonic antigen-related cell adhesion molecule 5 | |
| P08758 | Annexin A5 | |
| P08842 | Steryl-sulfatase | |
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial | |
| P09848 | Lactase/phlorizin hydrolase | |
| P11226 | Mannose-binding protein C |
