Aliases for NLRP12 Gene
External Ids for NLRP12 Gene
Previous HGNC Symbols for NLRP12 Gene
Previous GeneCards Identifiers for NLRP12 Gene
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]
GeneCards Summary for NLRP12 Gene
NLRP12 (NLR Family Pyrin Domain Containing 12) is a Protein Coding gene. Diseases associated with NLRP12 include Familial Cold Autoinflammatory Syndrome 2 and Familial Cold Autoinflammatory Syndrome. Among its related pathways are Nucleotide-binding Oligomerization Domain (NOD) pathway and Toll-Like receptor Signaling Pathways. GO annotations related to this gene include cysteine-type endopeptidase activator activity involved in apoptotic process. An important paralog of this gene is NLRP3.
UniProtKB/Swiss-Prot for NLRP12 Gene
May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK.