PSENEN
Function
Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12522139, PubMed:12679784, PubMed:12740439, PubMed:12763021, PubMed:24941111, PubMed:30598546, PubMed:30630874). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity (PubMed:12522139, PubMed:12679784, PubMed:12740439, PubMed:12763021, PubMed:24941111).
Involvement in disease
Acne inversa, familial, 2, with or without Dowling-Degos disease
ACNINV2
An autosomal dominant form of acne inversa, a chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Some ACNINV2 patients also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the PEN-2 family.
Tissue Specificity
Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
- Golgi apparatus
- Golgi stack membrane
- Multi-pass membrane protein
- Cell membrane
- Multi-pass membrane protein
- Membrane
- Multi-pass membrane protein
- Predominantly located in the endoplasmic reticulum and in the cis-Golgi.
Alternative names
PEN2, MDS033, PSENEN, Gamma-secretase subunit PEN-2, Presenilin enhancer protein 2