| Structural highlights
Disease
NALP7_HUMAN Partial hydatidiform mole;Complete hydatidiform mole. The disease is caused by mutations affecting the gene represented in this entry.[1] [2]
Function
NALP7_HUMAN Inhibits CASP1/caspase-1-dependent IL1B secretion.[3]
References
- ↑ Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B, Hanash S, Rouleau GA, Slim R. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet. 2006 Mar;38(3):300-2. Epub 2006 Feb 5. PMID:16462743 doi:http://dx.doi.org/ng1740
- ↑ Wang CM, Dixon PH, Decordova S, Hodges MD, Sebire NJ, Ozalp S, Fallahian M, Sensi A, Ashrafi F, Repiska V, Zhao J, Xiang Y, Savage PM, Seckl MJ, Fisher RA. Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region. J Med Genet. 2009 Aug;46(8):569-75. doi: 10.1136/jmg.2008.064196. Epub 2009 Feb, 25. PMID:19246479 doi:http://dx.doi.org/10.1136/jmg.2008.064196
- ↑ Kinoshita T, Wang Y, Hasegawa M, Imamura R, Suda T. PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion. J Biol Chem. 2005 Jun 10;280(23):21720-5. Epub 2005 Apr 6. PMID:15817483 doi:http://dx.doi.org/M410057200
|
