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

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:

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
NLRP12

References:

1.

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

external link
2.

Shami PJ et al. (2001) Identification and characterization of a novel gene that is upregulated in leukaemia cells by nitric oxide.

external link
3.

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.

external link
4.

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.

external link
5.

Jru I et. al. (2008) Mutations in NALP12 cause hereditary periodic fever syndromes.

external link
6.

Borghini S et. al. (2011) Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.

external link
7.

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

external link
8.

Vitale A et. al. () Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series.

external link
9.

Xia X et. al. (2016) Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.

external link
10.

Shen M et. al. (2017) NLRP12 autoinflammatory disease: a Chinese case series and literature review.

external link
11.

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

external link
12.
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues