NACHT, LRR and PYD domains-containing protein 12
The NLRP12 gene encodes a protein that interacts with various regulatory proteins. Mutations cause autosomal dominant familial cold autoinflammatory syndrome 2.
Genetests:
Related Diseases:
References:
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Tschopp J et al. (2003) NALPs: a novel protein family involved in inflammation.
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Shami PJ et al. (2001) Identification and characterization of a novel gene that is upregulated in leukaemia cells by nitric oxide.
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Wang L et al. (2002) PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing.
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Williams KL et al. (2003) Cutting edge: Monarch-1: a pyrin/nucleotide-binding domain/leucine-rich repeat protein that controls classical and nonclassical MHC class I genes.
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Jru I et. al. (2008) Mutations in NALP12 cause hereditary periodic fever syndromes.
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Borghini S et. al. (2011) Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.
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7. |
Jru I et. al. (2011) Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.
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8. |
Vitale A et. al. () Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series.
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Xia X et. al. (2016) Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.
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Shen M et. al. (2017) NLRP12 autoinflammatory disease: a Chinese case series and literature review.
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11. |
Ulland TK et al. (2016) Nlrp12 mutation causes C57BL/6J strain-specific defect in neutrophil recruitment.
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Update: Aug. 14, 2020