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Genetics Home Reference: your guide to understanding genetic conditions
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NLRP12

Reviewed September 2008

What is the official name of the NLRP12 gene?

The official name of this gene is “NLR family, pyrin domain containing 12.”

NLRP12 is the gene's official symbol. The NLRP12 gene is also known by other names, listed below.

What is the normal function of the NLRP12 gene?

The NLRP12 gene provides instructions for making a protein called monarch-1. Monarch-1 is a member of a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins, which are found in the fluid inside cells (cytoplasm). Monarch-1 is found mainly in certain types of white blood cells.

NLR proteins are involved in the immune system, helping to regulate the immune system's response to injury, toxins, or invasion by microorganisms. Unlike most NLR proteins that promote increased activity by the immune system, monarch-1 stops (inhibits) the release of certain molecules that are involved in the process of inflammation.

Inflammation occurs when the immune system sends signaling molecules as well as white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, stopping the inflammatory response helps to prevent damage to the body's own cells and tissues.

Does the NLRP12 gene share characteristics with other genes?

The NLRP12 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 NLRP12 gene related to health conditions?

familial cold autoinflammatory syndrome - caused by mutations in the NLRP12 gene

Two mutations in the NLRP12 gene have been identified in families with familial cold autoinflammatory syndrome from the Caribbean archipelago of Guadeloupe. These mutations appear to reduce the ability of the monarch-1 protein to inhibit the inflammatory response, resulting in the episodes of fever and inflammation seen in this disorder.

Where is the NLRP12 gene located?

Cytogenetic Location: 19q13.42

Molecular Location on chromosome 19: base pairs 53,793,583 to 53,824,402

The NLRP12 gene is located on the long (q) arm of chromosome 19 at position 13.42.

The NLRP12 gene is located on the long (q) arm of chromosome 19 at position 13.42.

More precisely, the NLRP12 gene is located from base pair 53,793,583 to base pair 53,824,402 on chromosome 19.

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 NLRP12?

You and your healthcare professional may find the following resources about NLRP12 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 NLRP12 gene or gene products?

  • CLR19.3
  • FCAS2
  • Monarch1
  • monarch 1
  • NACHT, leucine rich repeat and PYD containing 12
  • NACHT, LRR and PYD containing protein 12
  • NALP12
  • nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12
  • PAN6
  • PYPAF7
  • PYRIN-containing APAF1-like protein 7
  • regulated by nitric oxide
  • RNO
  • RNO2

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 NLRP12?

cytoplasm ; domain ; familial ; fever ; gene ; immune system ; inflammation ; injury ; leucine ; nucleotide ; protein ; syndrome ; tissue ; white blood cells

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

References

  • Jéru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, Grimprel E, Landman-Parker J, Hentgen V, Marlin S, McElreavey K, Sarkisian T, Grateau G, Alnemri ES, Amselem S. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1614-9. doi: 10.1073/pnas.0708616105. Epub 2008 Jan 29. (http://www.ncbi.nlm.nih.gov/pubmed/18230725?dopt=Abstract)
  • Macaluso F, Nothnagel M, Parwez Q, Petrasch-Parwez E, Bechara FG, Epplen JT, Hoffjan S. Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis. Exp Dermatol. 2007 Aug;16(8):692-8. (http://www.ncbi.nlm.nih.gov/pubmed/17620097?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/91662)
  • OMIM: NLR FAMILY, PYRIN DOMAIN-CONTAINING 12 (http://omim.org/entry/609648)
  • Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, Shoham N, Aganna E, Hugot JP, Wise C, Waterham H, Pugnere D, Demaille J, Sarrauste de Menthiere C. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat. 2004 Sep;24(3):194-8. (http://www.ncbi.nlm.nih.gov/pubmed/15300846?dopt=Abstract)
  • Williams KL, Taxman DJ, Linhoff MW, Reed W, Ting JP. Cutting edge: Monarch-1: a pyrin/nucleotide-binding domain/leucine-rich repeat protein that controls classical and nonclassical MHC class I genes. J Immunol. 2003 Jun 1;170(11):5354-8. (http://www.ncbi.nlm.nih.gov/pubmed/12759408?dopt=Abstract)
  • Ye Z, Lich JD, Moore CB, Duncan JA, Williams KL, Ting JP. ATP binding by monarch-1/NLRP12 is critical for its inhibitory function. Mol Cell Biol. 2008 Mar;28(5):1841-50. Epub 2007 Dec 26. (http://www.ncbi.nlm.nih.gov/pubmed/18160710?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: September 2008
Published: October 20, 2014