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. Alternatively spliced transcript variants encoding distinct isoforms have been described but the full-length nature of some of these has not been determined. [provided by RefSeq]

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: caspase activation; release of cytoplasmic sequestered NF-kappaB; 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; regulation of caspase activity; signal transduction; negative regulation of signal transduction; negative regulation of Toll signaling pathway; inhibition of NF-kappaB transcription factor; negative regulation of inflammatory response; positive regulation of MHC class I biosynthetic process; negative regulation of protein amino acid autophosphorylation; 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