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NALP7

MIM.609661

Saturday 11 February 2006

NALP7 is a member of the CATERPILLER protein family involved in inflammation and apoptosis. NALP7 is the first maternal effect gene identified in humans and is also responsible for recurrent spontaneous abortions, stillbirths and intrauterine growth retardation.

NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family.

NALPs family

Most short NALPs, such as NALP7, have an N-terminal pyrin (MEFV) (MIM.608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region.

The long NALP, NALP1 (MIM.606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD).

NALPs are implicated in the activation of proinflammatory caspases (CASP1) (MIM.147678) via their involvement in multiprotein complexes called inflammasomes.

Pathology

- mutations in the maternal gene NALP7 in individuals with familial and recurrent hydatidiform moles (HMs) .

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 Feb 5; PMID: 16462743