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NLR family pyrin domain containing 12
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.
2. Health Conditions Related to Genetic Changes
2.1. Familial cold autoinflammatory syndrome
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.
3. Other Names for This Gene
NACHT, leucine rich repeat and PYD containing 12
NACHT, LRR and PYD containing protein 12
NLR family, pyrin domain containing 12
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12
PYRIN-containing APAF1-like protein 7
regulated by nitric oxide
This entry is adapted from https://medlineplus.gov/genetics/gene/nlrp12
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