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 oligomerization domain (NOD)-like receptors, which are found in the fluid inside cells (cytoplasm). Monarch-1 is found mainly in certain types of white blood cells.
NOD-like receptors are involved in the immune system, helping to regulate the immune system's response to injury, toxins, or invasion by microorganisms. Unlike most NOD-like receptors 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? in the Handbook.
How are changes in the NLRP12 gene related to health conditions?
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familial cold autoinflammatory syndrome - caused by mutations in the NLRP12 gene
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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: 19q13.41
Molecular Location on chromosome 19: base pairs 58,988,649 to 59,019,403
The NLRP12 gene is located on the long (q) arm of chromosome 19 at position 13.41.
More precisely, the NLRP12 gene is located from base pair 58,988,649 to base pair 59,019,403 on chromosome 19.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about NLRP12?
You and your healthcare professional may find the following resources about NLRP12 helpful.
- Educational resources - Information pages
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed
- Recent literature
- OMIM - Genetic disorder catalog
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What other names do people use for the NLRP12 gene or gene products?
- CLR19.3
- FCAS2
- monarch 1
- Monarch1
- 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
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding NLRP12?
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? in the Handbook.
