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PROC

From SNPedia
is agene
is mentioned by
Full nameprotein C (inactivator of coagulation factors Va and VIIIa)
EntrezGene5624
PheGenI5624
VariationViewer5624
ClinVarPROC
GeneCardsPROC
dbSNP5624
DiseasesPROC
SADR5624
HugeNav5624
wikipediaPROC
googlePROC
gopubmedPROC
EVSPROC
HEFalMpPROC
MyGene2PROC
23andMePROC
UniProtP04070
EnsemblENSG00000115718
OMIM612283
# SNPs53
 Max MagnitudeChromosome positionSummary
i5003625
i5003626
rs1158867127,419,801
rs1219181419127,428,602
rs1219181429127,428,892
rs1219181439127,426,180
rs1219181449127,428,462
rs1219181457127,426,178
rs1219181469127,428,485
rs1219181479127,428,587
rs1219181489127,421,397
rs1219181499127,421,438
rs1219181509127,428,560
rs1219181519127,428,426
rs1219181529127,426,207
rs1219181539127,426,208
rs1219181549127,428,374
rs1219181559127,426,227
rs1219181569127,427,219
rs1219181579127,428,895
rs1219181589127,428,575
rs1219181599127,423,319
rs1219181609127,428,495
rs1427422429127,428,761
rs1469223258127,426,114
rs1799808127,418,286
rs1799809127,418,299
rs17998100127,418,464
rs1994694690127,426,123
rs1994694700127,426,090
rs1994694710127,428,449
rs1994694720127,428,818
rs1994694730127,429,019
rs1994694740127,423,397
rs1994694750127,427,142
rs1994694760127,426,181
rs1994694770127,423,120
rs1994694780127,423,176
rs1994694790127,423,087
rs1994694800127,428,540
rs1994694810127,421,420
rs1994694820127,421,454
rs1994694830127,426,218
rs20699120127,420,615
rs2069919127,421,977
rs28933986127,426,180
rs28933987127,426,181
rs3695041693127,421,337
rs59350127,428,451
rs7575838469127,421,381
... further results

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.