NLRP12 Antibody – Rabbit Polyclonal

This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

NLRP12: May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK. Defects in NLRP12 are the cause of familial cold autoinflammatory syndrome type 2 (FCAS2). 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. 5 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 19q13.42

Cellular Component: cytoplasm; nucleus

Molecular Function: protein binding; caspase activator activity; ATP binding

Biological Process: release of cytoplasmic sequestered NF-kappaB; caspase activation; negative regulation of cytokine secretion; negative regulation of interleukin-6 biosynthetic process; negative regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of interleukin-1 beta secretion; signal transduction; regulation of caspase activity; negative regulation of signal transduction; negative regulation of Toll signaling pathway; inhibition of NF-kappaB transcription factor; negative regulation of inflammatory response; negative regulation of protein amino acid autophosphorylation; positive regulation of MHC class I biosynthetic process; regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of interleukin-1 secretion; regulation of interleukin-18 biosynthetic process; positive regulation of inflammatory response

Disease: Familial Cold Autoinflammatory Syndrome 2