Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

NLRP1

Reviewed January 2015

What is the official name of the NLRP1 gene?

The official name of this gene is “NLR family, pyrin domain containing 1.”

NLRP1 is the gene's official symbol. The NLRP1 gene is also known by other names, listed below.

What is the normal function of the NLRP1 gene?

The NLRP1 gene provides instructions for making a member of a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. These proteins are involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. The body then stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues.

The NLRP1 protein is involved in the assembly of a molecular complex called an inflammasome, which helps trigger the inflammatory process in response to the presence of bacteria or viruses. Researchers believe that the NLRP1 protein may also play a role in the self-destruction of cells (apoptosis).

Does the NLRP1 gene share characteristics with other genes?

The NLRP1 gene belongs to a family of genes called NLR (nucleotide-binding domain and leucine rich repeat containing family).

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 NLRP1 gene related to health conditions?

autoimmune disorders - increased risk from variations of the NLRP1 gene

NLRP1 gene variations have been associated with an increased risk of autoimmune disorders. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. These disorders include type 1 diabetes, in which insulin-producing cells in the pancreas are destroyed, and Addison disease, which is caused by autoimmune damage to the small hormone-producing glands on top of each kidney (adrenal glands). Certain NLRP1 gene variations seem to make affected individuals more prone to overactivity of the immune system, resulting in damage to the body's own tissues and organs.

vitiligo - increased risk from variations of the NLRP1 gene

Studies have associated variations in the NLRP1 gene with an increased risk of vitiligo, an autoimmune condition that results in patchy changes in skin coloring (pigmentation).

One of the NLRP1 gene variations associated with vitiligo changes the protein building block (amino acid) leucine to the amino acid histidine at position 155 in the NLRP1 protein sequence, written as Leu155His or L155H. This and other variations likely affect the activity of the NLRP1 protein, making it more difficult for the body to control inflammation and prevent the immune system from attacking its own tissues. While the pigment loss associated with vitiligo results from the immune system attacking pigment-producing cells (melanocytes) in the skin, it is unclear what specific circumstances trigger the immune system to do so. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified.

Where is the NLRP1 gene located?

Cytogenetic Location: 17p13.2

Molecular Location on chromosome 17: base pairs 5,501,398 to 5,584,511

The NLRP1 gene is located on the short (p) arm of chromosome 17 at position 13.2.

The NLRP1 gene is located on the short (p) arm of chromosome 17 at position 13.2.

More precisely, the NLRP1 gene is located from base pair 5,501,398 to base pair 5,584,511 on chromosome 17.

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 NLRP1?

You and your healthcare professional may find the following resources about NLRP1 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 NLRP1 gene or gene products?

  • CARD7
  • CLR17.1
  • DEFCAP
  • DKFZp586O1822
  • KIAA0926
  • NAC
  • NALP1
  • NALP1_HUMAN
  • SLEV1
  • VAMAS1

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 NLRP1?

adrenal glands ; amino acid ; apoptosis ; autoimmune ; bacteria ; diabetes ; domain ; gene ; histidine ; hormone ; immune system ; inflammation ; injury ; insulin ; kidney ; leucine ; melanocytes ; nucleotide ; pancreas ; pigment ; pigmentation ; protein ; protein sequence ; tissue ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

  • Jin Y, Birlea SA, Fain PR, Spritz RA. Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population. J Invest Dermatol. 2007 Nov;127(11):2558-62. Epub 2007 Jul 19. (http://www.ncbi.nlm.nih.gov/pubmed/17637824?dopt=Abstract)
  • Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA. NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med. 2007 Mar 22;356(12):1216-25. (http://www.ncbi.nlm.nih.gov/pubmed/17377159?dopt=Abstract)
  • Jin Y, Riccardi SL, Gowan K, Fain PR, Spritz RA. Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1). J Invest Dermatol. 2010 Mar;130(3):774-83. doi: 10.1038/jid.2009.273. Epub 2009 Sep 3. (http://www.ncbi.nlm.nih.gov/pubmed/19727120?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/22861)
  • OMIM: NLR FAMILY, PYRIN DOMAIN-CONTAINING 1 (http://omim.org/entry/606636)
  • Pontillo A, Brandao L, Guimaraes R, Segat L, Araujo J, Crovella S. Two SNPs in NLRP3 gene are involved in the predisposition to type-1 diabetes and celiac disease in a pediatric population from northeast Brazil. Autoimmunity. 2010 Dec;43(8):583-9. doi: 10.3109/08916930903540432. Epub 2010 Apr 7. (http://www.ncbi.nlm.nih.gov/pubmed/20370570?dopt=Abstract)
  • Smith AG, Sturm RA. Multiple genes and locus interactions in susceptibility to vitiligo. J Invest Dermatol. 2010 Mar;130(3):643-5. doi: 10.1038/jid.2009.403. (http://www.ncbi.nlm.nih.gov/pubmed/20145641?dopt=Abstract)
  • Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases. Pigment Cell Res. 2007 Aug;20(4):271-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17630960?dopt=Abstract)
  • Taïeb A. NALP1 and the inflammasomes: challenging our perception of vitiligo and vitiligo-related autoimmune disorders. Pigment Cell Res. 2007 Aug;20(4):260-2. (http://www.ncbi.nlm.nih.gov/pubmed/17630958?dopt=Abstract)
  • Zurawek M, Fichna M, Januszkiewicz-Lewandowska D, Gryczyńska M, Fichna P, Nowak J. A coding variant in NLRP1 is associated with autoimmune Addison's disease. Hum Immunol. 2010 May;71(5):530-4. doi: 10.1016/j.humimm.2010.02.004. Epub 2010 Mar 1. (http://www.ncbi.nlm.nih.gov/pubmed/20152874?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: January 2015
Published: September 1, 2015