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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 |
|---|---|---|---|
| 6403 | SELP | selectin P | |
| 6609 | SMPD1 | sphingomyelin phosphodiesterase 1 | |
| 8813 | DPM1 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | |
| 8818 | DPM2 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | |
| 10855 | HPSE | heparanase | |
| 29929 | ALG6 | ALG6 alpha-1,3-glucosyltransferase | |
| 55768 | NGLY1 | N-glycanase 1 | |
| 79644 | SRD5A3 | steroid 5 alpha-reductase 3 | |
| 79660 | PPP1R3B | protein phosphatase 1 regulatory subunit 3B |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14002 | Carcinoembryonic antigen-related cell adhesion molecule 7 | |
| Q96IV0 | Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase | |
| Q9UQK1 | Protein phosphatase 1 regulatory subunit 3C | |
| Q9Y251 | Heparanase | |
| Q9Y672 | Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase |
