Gene: NCSTN

Alternate names for this Gene: ATAG1874

Gene Summary: This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.2

Description of this Gene: nicastrin

Type of Gene: protein-coding

rs1085307081 in NCSTN gene and ACNE INVERSA, FAMILIAL, 1 PMID 20929727 2010 Gamma-secretase gene mutations in familial acne inversa.

PMID 22358060 2012 Nicastrin mutations in French families with hidradenitis suppurativa.

rs12724113 in NCSTN gene and White Blood Cell Count procedure PMID 21738479 2011 Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).