PSENEN (presenilin enhancer, gamma-secretase subunit) — Gene

What This Gene Does

Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Gene Info

Gene Group

Gamma-secretase complex subunits

Locus Type

gene with protein product

Location

19q13.12

Ensembl

ENSG00000205155

Associated Conditions (4)

Acne inversa

familial

2

Squamous cell lung carcinoma

Key Variants

RS1555738763

Pathogenic

Acne inversa, familial, 2

Health Risk

RS1555738836

Pathogenic

Acne inversa, familial, 2

Health Risk

RS1555738837

Pathogenic

Acne inversa, familial, 2

Health Risk

RS1555738903

Pathogenic

Acne inversa, familial, 2

Health Risk

RS1555738906

Pathogenic

Acne inversa, familial, 2

Health Risk

RS1555738943

Pathogenic

Acne inversa, familial, 2

Health Risk

All Variants (6)

RSID	Category	Clinical Significance	Conditions
RS1555738763	Health Risk	Pathogenic	Acne inversa, familial, 2
RS1555738836	Health Risk	Pathogenic	Acne inversa, familial, 2
RS1555738837	Health Risk	Pathogenic	Acne inversa, familial, 2
RS1555738903	Health Risk	Pathogenic	Acne inversa, familial, 2
RS1555738906	Health Risk	Pathogenic	Acne inversa, familial, 2
RS1555738943	Health Risk	Pathogenic	Acne inversa, familial, 2

PSENEN Chromosome 19