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Genetics Home Reference: your guide to understanding genetic conditions
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SERPING1

Reviewed April 2009

What is the official name of the SERPING1 gene?

The official name of this gene is “serpin peptidase inhibitor, clade G (C1 inhibitor), member 1.”

SERPING1 is the gene's official symbol. The SERPING1 gene is also known by other names, listed below.

What is the normal function of the SERPING1 gene?

The SERPING1 gene provides instructions for making a protein called C1 inhibitor, which is a type of serine protease inhibitor (serpin). Serpins help control several types of chemical reactions by blocking the activity of certain proteins. C1 inhibitor is important for controlling a range of processes involved in maintaining blood vessels, including inflammation. Inflammation is a normal body response to infection, irritation, or other injury.

C1 inhibitor blocks the activity of several proteins in the blood, including plasma kallikrein and the activated form of factor XII (called factor XIIa). These two proteins are involved in the production of bradykinin. Bradykinin is a protein that promotes inflammation by increasing the permeability of blood vessel walls, allowing fluids to leak into body tissues. C1 inhibitor attaches (binds) to plasma kallikrein and factor XIIa, which prevents them from completing any further reactions. These proteins are cleared from the bloodstream once they are bound to C1 inhibitor.

Does the SERPING1 gene share characteristics with other genes?

The SERPING1 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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the SERPING1 gene related to health conditions?

hereditary angioedema - caused by mutations in the SERPING1 gene

More than 250 mutations in the SERPING1 gene have been found to cause hereditary angioedema types I and II. Mutations that cause type I occur throughout the gene and lead to reduced levels of C1 inhibitor in the blood. Mutations that cause type II usually occur in a specific region of the gene called exon 8 and result in the production of a C1 inhibitor that functions abnormally. Without the proper levels of functional C1 inhibitor, the activity of plasma kallikrein and factor XIIa cannot be blocked and excessive amounts of bradykinin are produced. Excess fluids leak through blood vessel walls and accumulate in body tissues, leading to the recurrent episodes of swelling seen in individuals with hereditary angioedema type I and type II.

Where is the SERPING1 gene located?

Cytogenetic Location: 11q12.1

Molecular Location on chromosome 11: base pairs 57,597,553 to 57,614,852

The SERPING1 gene is located on the long (q) arm of chromosome 11 at position 12.1.

The SERPING1 gene is located on the long (q) arm of chromosome 11 at position 12.1.

More precisely, the SERPING1 gene is located from base pair 57,597,553 to base pair 57,614,852 on chromosome 11.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SERPING1?

You and your healthcare professional may find the following resources about SERPING1 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 SERPING1 gene or gene products?

  • C1IN
  • C1INH
  • C1-INH
  • C1NH
  • complement component 1 inhibitor
  • IC1_HUMAN
  • plasma protease C1 inhibitor
  • serine/cysteine proteinase inhibitor clade G member 1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SERPING1?

bradykinin ; cysteine ; exon ; gene ; hereditary ; infection ; inflammation ; injury ; permeability ; plasma ; protease ; protein ; proteinase ; serine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • OMIM: COMPLEMENT COMPONENT 1 INHIBITOR (http://omim.org/entry/606860)
  • Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M. C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. Trends Mol Med. 2009 Feb;15(2):69-78. doi: 10.1016/j.molmed.2008.12.001. Epub 2009 Jan 21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19162547?dopt=Abstract)
  • Gösswein T, Kocot A, Emmert G, Kreuz W, Martinez-Saguer I, Aygören-Pürsün E, Rusicke E, Bork K, Oldenburg J, Müller CR. Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema. Cytogenet Genome Res. 2008;121(3-4):181-8. doi: 10.1159/000138883. Epub 2008 Aug 28. (http://www.ncbi.nlm.nih.gov/pubmed/18758157?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/710)
  • Pappalardo E, Caccia S, Suffritti C, Tordai A, Zingale LC, Cicardi M. Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates. Mol Immunol. 2008 Aug;45(13):3536-44. doi: 10.1016/j.molimm.2008.05.007. Epub 2008 Jun 30. (http://www.ncbi.nlm.nih.gov/pubmed/18586324?dopt=Abstract)
  • Wouters D, Wagenaar-Bos I, van Ham M, Zeerleder S. C1 inhibitor: just a serine protease inhibitor? New and old considerations on therapeutic applications of C1 inhibitor. Expert Opin Biol Ther. 2008 Aug;8(8):1225-40. doi: 10.1517/14712598.8.8.1225 . Review. (http://www.ncbi.nlm.nih.gov/pubmed/18613773?dopt=Abstract)
  • Zuraw BL. Clinical practice. Hereditary angioedema. N Engl J Med. 2008 Sep 4;359(10):1027-36. doi: 10.1056/NEJMcp0803977. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18768946?dopt=Abstract)

 

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.

 
Reviewed: April 2009
Published: November 24, 2014