Gene Symbol | NLRP12 |
Entrez Gene ID | 91662 |
Full Name | NLR family pyrin domain containing 12 |
Synonyms | CLR19.3,FCAS2,NALP12,PAN6,PYPAF7,RNO,RNO2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Familial cold autoinflammatory syndrome 2, 611762 (3) |