Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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.


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:

Familial cold autoinflammatory syndrome 2



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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Jru I et. al. (2011) Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.

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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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Ulland TK et al. (2016) Nlrp12 mutation causes C57BL/6J strain-specific defect in neutrophil recruitment.

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Update: Aug. 14, 2020
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