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 | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 | |
| Specimen type | genomic DNA |
Related Diseases:
Hypomethylation syndrome
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DNMT1
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DNMT3A
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DNMT3B
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KHDC3L
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MECP2
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NLRP2
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NLRP7
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Recurrent hydatidiform mole 1
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NLRP7
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Recurrent hydatidiform mole 2
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KHDC3L
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ZFP57
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References:
| 1. |
Caliebe A et. al. (2014) A familial disorder of altered DNA-methylation. [^] |
| 2. |
Agostini L et al. (2004) NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. [^] |
| 3. |
Tschopp J et. al. (2003) NALPs: a novel protein family involved in inflammation. [^] |
| 4. |
Bruey JM et. al. (2004) PAN1/NALP2/PYPAF2, an inducible inflammatory mediator that regulates NF-kappaB and caspase-1 activation in macrophages. [^] |
| 5. |
Peng H et. al. (2012) Nlrp2, a maternal effect gene required for early embryonic development in the mouse. [^] |
Update: Sept. 26, 2018
