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The official name of this gene is “protein C (inactivator of coagulation factors Va and VIIIa).”
PROC is the gene's official symbol. The PROC gene is also known by other names, listed below.
The PROC gene provides instructions for making a protein called protein C that is important for controlling blood clotting. Protein C blocks the activity of two proteins that promote the formation of blood clots, called factor Va and factor VIIIa. Protein C is also involved in controlling inflammation. Inflammation is a normal body response to infection, irritation, or other injury.
Protein C is made in the liver and then released into the bloodstream. The protein remains turned off (inactive) until it attaches to a protein called thrombin, which converts it to activated protein C (APC). APC cuts (cleaves) the factor Va protein at specific sites, which partially or completely inactivates factor Va. (The inactive form is called factor V.) APC then works with factor V to inactivate factor VIIIa.
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.
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.
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.
Cytogenetic Location: 2q13-q14
Molecular Location on chromosome 2: base pairs 128,175,995 to 128,186,821
The PROC gene is located on the long (q) arm of chromosome 2 between positions 13 and 14.
More precisely, the PROC gene is located from base pair 128,175,995 to base pair 128,186,821 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about PROC helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; blood clotting ; clotting ; coagulation ; coagulation factors ; deficiency ; gene ; infection ; inflammation ; injury ; mutation ; protein ; thrombin
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.