URL of this page: https://medlineplus.gov/genetics/gene/nlrp1/

NLRP1 gene

NLR family pyrin domain containing 1
From Genetics Home Reference. Learn more

Normal Function

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).

Health Conditions Related to Genetic Changes

Vitiligo

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.

More About This Health Condition

Autoimmune Addison disease

MedlinePlus Genetics provides information about Autoimmune Addison disease

More About This Health Condition

Autoimmune disorders

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.

Other Names for This Gene

  • CARD7
  • CLR17.1
  • DEFCAP
  • DKFZp586O1822
  • KIAA0926
  • NAC
  • NALP1
  • NALP1_HUMAN
  • NLR family, pyrin domain containing 1
  • SLEV1
  • VAMAS1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases. Pigment Cell Res. 2007 Aug;20(4):271-8. Review. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
From Genetics Home Reference

Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. Learn more

The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional.