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Reviewed August 2009
What is the official name of the SERPINC1 gene?
The official name of this gene is “serpin peptidase inhibitor, clade C (antithrombin), member 1.”
SERPINC1 is the gene's official symbol. The SERPINC1 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 SERPINC1 gene?
The SERPINC1 gene provides instructions for making a protein called antithrombin (previously known as antithrombin III), which is a type of serine protease inhibitor (serpin). Serpins help control several types of chemical reactions by blocking the activity of certain proteins. Antithrombin is found in the bloodstream and is important for controlling blood clotting.
Antithrombin blocks the activity of proteins that promote blood clotting, especially a protein called thrombin. Antithrombin attaches (binds) to thrombin and certain other clotting proteins, which are then cleared from the bloodstream by the liver.
While one part of antithrombin binds to thrombin and other clotting proteins, another part of the protein binds to a substance called heparin. Antithrombin changes its shape when it binds to heparin. This change in shape allows antithrombin to inactivate clotting proteins at a much faster rate.
Does the SERPINC1 gene share characteristics with other genes?
The SERPINC1 gene belongs to a family of genes called SERPIN (serine (or cysteine) peptidase inhibitors).
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 SERPINC1 gene related to health conditions?
Where is the SERPINC1 gene located?
Cytogenetic Location: 1q25.1
Molecular Location on chromosome 1: base pairs 173,872,937 to 173,886,515
The SERPINC1 gene is located on the long (q) arm of chromosome 1 at position 25.1.
More precisely, the SERPINC1 gene is located from base pair 173,872,937 to base pair 173,886,515 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SERPINC1?
You and your healthcare professional may find the following resources about SERPINC1 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 SERPINC1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 SERPINC1?
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.