Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hypomethylation syndrome
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Recurrent hydatidiform mole 1
NLRP7
Recurrent hydatidiform mole 2
KHDC3L
ZFP57

References:

1.

Caliebe A et al. (2014) A familial disorder of altered DNA-methylation.

external link
2.

Agostini L et al. (2004) NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder.

external link
3.

Tschopp J et al. (2003) NALPs: a novel protein family involved in inflammation.

external link
4.

Bruey JM et al. (2004) PAN1/NALP2/PYPAF2, an inducible inflammatory mediator that regulates NF-kappaB and caspase-1 activation in macrophages.

external link
5.

Peng H et al. (2012) Nlrp2, a maternal effect gene required for early embryonic development in the mouse.

external link
6.

NCBI article

NCBI 55655 external link
7.

OMIM.ORG article

Omim 609364 external link
8.

Wikipedia article

Wikipedia EN (NLRP2) external link
Update: Aug. 14, 2020
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