Gene: NLRP12

Alternate names for this Gene: CLR19.3|FCAS2|NALP12|PAN6|PYPAF7|RNO|RNO2

Gene 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.42

Description of this Gene: NLR family pyrin domain containing 12

Type of Gene: protein-coding

rs10418046 in NLRP12 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs1555794506 in NLRP12 gene and Familial Cold Autoinflammatory Syndrome 2 PMID 18230725 2008 Mutations in NALP12 cause hereditary periodic fever syndromes.

rs10418046 in NLRP12 gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs10418046 in NLRP12 gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs145171629 in NLRP12 gene and Schizophrenia, Childhood PMID 26508570 2016 De novo variants in sporadic cases of childhood onset schizophrenia.