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. [^] |
| 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. [^] |
| 6. |
NCBI article NCBI 55655 [^] |
| 7. |
OMIM.ORG article Omim 609364 [^] |
| 8. |
Wikipedia article Wikipedia EN (NLRP2) [^] |
