Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Nicastrin

Das NCSTN-Gen kodiert eine transmembranöse Glycoprotein-Protease , welche verschiedene regulatorische Protein spaltet. Mutationen führen zu autosomal dominanter familiären Acne inversa 1 und PASH-Syndrom.

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:

Familiäre Acne inversa 1
NCSTN
Pyoderma gangraenosum, Acne und Hidradenitis suppurativa (PASH)
NCSTN

Referenzen:

1.

Foncin JF et. al. (1985) [Alzheimer's presenile dementia transmitted in an extended kindred].

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2.

Zubenko GS et. al. (1998) A genome survey for novel Alzheimer disease risk loci: results at 10-cM resolution.

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3.

Kehoe P et. al. (1999) A full genome scan for late onset Alzheimer's disease.

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4.

Yu G et. al. (2000) Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing.

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5.

Hiltunen M et. al. (2001) Genome-wide linkage disequilibrium mapping of late-onset Alzheimer's disease in Finland.

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6.

Goutte C et. al. (2002) APH-1 is a multipass membrane protein essential for the Notch signaling pathway in Caenorhabditis elegans embryos.

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7.

Kopan R et. al. (2002) Aph-2/Nicastrin: an essential component of gamma-secretase and regulator of Notch signaling and Presenilin localization.

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8.

Dermaut B et. al. (2002) The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample.

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9.

Steiner H et. al. (2002) PEN-2 is an integral component of the gamma-secretase complex required for coordinated expression of presenilin and nicastrin.

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10.

Lee SF et. al. (2002) Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch.

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11.

Rozmahel R et. al. (2002) Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype.

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12.

Orlacchio A et. al. (2002) Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms.

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13.

Pasternak SH et. al. (2003) Presenilin-1, nicastrin, amyloid precursor protein, and gamma-secretase activity are co-localized in the lysosomal membrane.

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14.

FELDMAN RG et. al. (1963) FAMILIAL ALZHEIMER'S DISEASE.

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15.

Helisalmi S et. al. (2004) Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population.

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16.

Kaether C et. al. (2004) The presenilin C-terminus is required for ER-retention, nicastrin-binding and gamma-secretase activity.

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17.

Wang B et. al. (2010) Gamma-secretase gene mutations in familial acne inversa.

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18.

Pink AE et. al. (2011) PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).

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19.

Lu P et. al. (2014) Three-dimensional structure of human γ-secretase.

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20.
Update: 9. Mai 2019