Gene Symbol | NLRP1 |
Entrez Gene ID | 22861 |
Full Name | NLR family pyrin domain containing 1 |
Synonyms | AIADK,CARD7,CIDED,CLR17.1,DEFCAP,DEFCAP-L/S,MSPC,NAC,NALP1,PP1044,SLEV1,VAMAS1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3); Palmoplantar carcinoma, multiple self-healing, 615255 (3); Autoinflammation with arthritis and dyskeratosis, 617388 (3) |