D000071199Level 6
NLR Family, Pyrin Domain-Containing 3 Protein
**Definition:** An NLR protein that contains an N-terminal PYRIN DOMAIN and ATP-binding site and 9 C-terminal LEUCINE-rich repeats; it is expressed primarily by MACROPHAGES. It is a core component of the INFLAMMASOME and directs its assembly in response to pathogen infection and damage-associated stimuli. Mutations in the NLRP3 gene are associated with FAMILIAL COLD AUTOINFLAMMATORY SYNDROME.
**Tree numbers:** - D12.644.360.539.250
**Synonyms:** - NLRP3 Protein - Cold Autoinflammatory Syndrome 1 Protein - NACHT, LRR and PYD Domains-Containing Protein 3
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