NACHT, LRR and PYD domains-containing protein 2
The NLRP2 encodes an nucleotide-binding protein which plays a role in immune response. Also iit seems to be involved in methylation, so an involvement in hypomethylation syndrome is hypothesized.
Genetests:
Related Diseases:
References:
1. |
Caliebe A et al. (2014) A familial disorder of altered DNA-methylation.
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2. |
Agostini L et al. (2004) NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder.
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3. |
Tschopp J et al. (2003) NALPs: a novel protein family involved in inflammation.
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4. |
Bruey JM et al. (2004) PAN1/NALP2/PYPAF2, an inducible inflammatory mediator that regulates NF-kappaB and caspase-1 activation in macrophages.
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5. |
Peng H et al. (2012) Nlrp2, a maternal effect gene required for early embryonic development in the mouse.
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6. |
NCBI article
NCBI 55655
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7. |
OMIM.ORG article
Omim 609364
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8. |
Wikipedia article
Wikipedia EN (NLRP2)
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Update: Aug. 14, 2020