NLR family pyrin domain containing 1
Dernière mise à jour 8 mai 2023
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La 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.
Normal function
La 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).
Conditions referring to this gene or chromosome
Other names
CARD7
CLR17.1
DEFCAP
DKFZp586O1822
KIAA0926
NAC
NALP1
NALP1_HUMAN
NLR family, pyrin domain containing 1
SLEV1
VAMAS1
Related patient information and medicines
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Lectures complémentaires et références
- NLR family pyrin domain containing 1; MedlinePlus, National Library of Medicine.
- 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. doi: 10.1038/sj.jid.5700953. Epub 2007 Jul 19.
- 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. doi: 10.1056/NEJMoa061592.
- 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.
- 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.
- 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.
- Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases. Pigment Cell Res. 2007 Aug;20(4):271-8. doi: 10.1111/j.1600-0749.2007.00384.x.
- Taieb A. NALP1 and the inflammasomes: challenging our perception of vitiligo and vitiligo-related autoimmune disorders. Pigment Cell Res. 2007 Aug;20(4):260-2. doi: 10.1111/j.1600-0749.2007.00393.x. No abstract available.
- Zurawek M, Fichna M, Januszkiewicz-Lewandowska D, Gryczynska 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.
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