The NLRP3 gene provides instructions for making a protein called cryopyrin. Cryopyrin is a member of a family of proteins called intracellular “NOD-like” receptor (NLR) proteins. Cryopyrin is found mainly in white blood cells and in cartilage-forming cells (chondrocytes).
NLR proteins are involved in the immune system, helping to start and regulate the immune system’s response to injury, toxins, or foreign invaders. NLR proteins recognize specific molecules and respond by helping to turn on (activate) certain parts of the immune system. Cryopyrin recognizes bacteria; chemicals such as asbestos, silica, and uric acid crystals; and compounds released by injured cells.
Cryopyrin molecules assemble themselves, along with other proteins, into structures called inflammasomes, which help trigger 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 foreign invaders and help repair damaged tissues. Once the threat is over, the body stops (inhibits) the inflammatory response, to prevent damage to its own cells and tissues.
Other Names
AII/AVP; AII/AVP receptor-like; angiotensin/vasopressin receptor AII/AVP-like; AVP; C1orf7; CIAS1; CLR1.1; cryopyrin; NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3; NACHT, LRR and PYD containing protein 3; NALP3_HUMAN; NLR family, pyrin domain containing 3; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3; PYPAF1; PYRIN-containing APAF1-like protein 1
Related Genetics Topics
- Muckle-Wells syndrome — MedlinePlus Genetics
- Familial cold autoinflammatory syndrome — MedlinePlus Genetics
- Neonatal onset multisystem inflammatory disease — MedlinePlus Genetics
- Cryopyrin-associated periodic syndromes — MedlinePlus Genetics
Identifiers
- NCBI Gene: 114548
- OMIM: 606416
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
