PROC
| is a | gene |
| is | mentioned by |
| Full name | protein C (inactivator of coagulation factors Va and VIIIa) |
| EntrezGene | 5624 |
| PheGenI | 5624 |
| VariationViewer | 5624 |
| ClinVar | PROC |
| GeneCards | PROC |
| dbSNP | 5624 |
| Diseases | PROC |
| SADR | 5624 |
| HugeNav | 5624 |
| wikipedia | PROC |
| PROC | |
| gopubmed | PROC |
| EVS | PROC |
| HEFalMp | PROC |
| MyGene2 | PROC |
| 23andMe | PROC |
| UniProt | P04070 |
| Ensembl | ENSG00000115718 |
| OMIM | 612283 |
| # SNPs | 53 |
The PROC gene, located on chromosome 2, provides instructions for making a protein called protein C that is important for controlling blood clotting. At least 270 mutations in the PROC gene have been found to cause protein C deficiency. Most of these mutations change single protein building blocks (amino acids) in protein C, which disrupts its ability to control blood clotting. Protein C deficiency can be divided into type I and type II based on the mutation in the PROC gene.GHR
Protein C deficiency type I is caused by PROC gene mutations that result in reduced levels of protein C. Affected individuals do not have enough protein C to control blood clotting, which causes the increased risk for abnormal blood clots in protein C deficiency, and specifically, venous thromboembolism.GHR
Mutations that cause protein C deficiency type II result in the production of an altered protein C with reduced activity. Individuals with this form of the condition have normal levels of protein C, but the protein is not able to interact with other molecules involved in blood clotting. If protein C cannot control blood clotting, abnormal blood clots may form.GHR
Protein C deficiency can be mild or severe. Mild protein C deficiency affects approximately 1 in 500 individuals, and heterozygotes are usually asymptomatic until adulthood. Severe protein C deficiency is rare and occurs in an estimated 1 in 4 million newborns. Protein C deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROC gene in each cell is sufficient to cause mild protein C deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein C deficiency.GHR
Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from the surface of the skin. A DVT can travel through the bloodstream and lodge in the lungs, causing a life-threatening blockage of blood flow known as a pulmonary embolism (PE). While most people with mild protein C deficiency never develop abnormal blood clots, certain factors can add to the risk of their development. These factors include increased age, surgery, inactivity, or pregnancy. Having another inherited disorder of blood clotting in addition to protein C deficiency can also influence the risk of abnormal blood clotting. In severe cases of protein C deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth.GHR
Genotypes in SNPedia that containing pathogenic PROC gene mutations may include reference to the ClinGen Actionability PROC page, which is based on thrombophilia due to protein C deficiency.
