Gene: NLRP1

Alternate names for this Gene: AIADK|CARD7|CIDED|CLR17.1|DEFCAP|DEFCAP-L/S|JRRP|MSPC|NAC|NALP1|PP1044|SLEV1|VAMAS1

Gene Summary: This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.2

Description of this Gene: NLR family pyrin domain containing 1

Type of Gene: protein-coding

rs1057524876 in NLRP1 gene and AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS PMID 27965258 2017 A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).

rs11868655 in NLRP1 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs397514692 in NLRP1 gene and PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING PMID 23349227 2013 Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.

PMID 27662089 2016 Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.

rs11868655 in NLRP1 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11868655 in NLRP1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.