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

Nicastrin

The NCSTN gene encodes a transmembrane glycoprotein proteinase that cleaves several regulatory proteins. Mutations cause ausosomal dominant familial acne inversa 1 and PASH syndrome.

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 acne inversa 1
NCSTN
Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH)
NCSTN

References:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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.

external link
12.

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

external link
13.

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.

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.
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