May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK.
Detected only in peripheral blood leukocytes, predominantly in eosinophils and granulocytes, and at lower levels in monocytes.
Involvement in disease
Defects in NLRP12 are the cause of familial cold autoinflammatory syndrome type 2 (FCAS2) [MIM:611762]. FCAS are rare autosomal dominant systemic inflammatory diseases characterized by episodes of rash, arthralgia, fever and conjunctivitis after generalized exposure to cold.
Belongs to the NLRP family. Contains 1 DAPIN domain. Contains 8 LRR (leucine-rich) repeats. Contains 1 NACHT domain.