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PROC

PROC

Reviewed October 2009

What is the official name of the PROC gene?

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.

Read more about gene names and symbols on the About page.

What is the normal function of the PROC gene?

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.

Does the PROC gene share characteristics with other genes?

The PROC gene belongs to a family of genes called endogenous ligands (endogenous ligands).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the PROC gene related to health conditions?

protein C deficiency - caused by mutations in the PROC gene

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.

Where is the PROC gene located?

Cytogenetic Location: 2q13-q14

Molecular Location on chromosome 2: base pairs 127,418,419 to 127,429,245

The PROC gene is located on the long (q) arm of chromosome 2 between positions 13 and 14.

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 127,418,419 to base pair 127,429,245 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PROC?

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.

What other names do people use for the PROC gene or gene products?

  • PC
  • PROC1
  • PROC_HUMAN
  • protein C

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding PROC?

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.

See also Understanding Medical Terminology.

References (6 links)

 

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? in the Handbook.

 
Reviewed: October 2009
Published: November 24, 2014