Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

NACHT-, LRR- und PYD-Domain-enthaltendes Protein 12

Das NLRP12-Gen kodiert ein Protein welches mit verschiedenen Regulatorproteinen interagiert. Mutationen führen zu autosomal dominantem familiärem kälteinduziertem autoinflammatorischen Syndrom 2.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Familiäres kälteinduziertes autoinflammatorisches Syndrom 2
NLRP12

Referenzen:

1.

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

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2.

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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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.

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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.

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5.

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

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6.

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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9.

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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10.

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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12.
Update: 9. Mai 2019