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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 |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 308 | ANXA5 | annexin A5 | |
| 412 | STS | steroid sulfatase | |
| 1048 | CEACAM5 | CEA cell adhesion molecule 5 | |
| 1087 | CEACAM7 | CEA cell adhesion molecule 7 | |
| 1559 | CYP2C9 | cytochrome P450 family 2 subfamily C member 9 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1738 | DLD | dihydrolipoamide dehydrogenase | |
| 2717 | GLA | galactosidase alpha | |
| 3938 | LCT | lactase |
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 |
