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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PSENEN
presenilin enhancer, gamma-secretase subunit
Chromosome 19 · 19q13.12
NCBI Gene: 55851Ensembl: ENSG00000205155.9HGNC: HGNC:30100UniProt: Q9NZ42
97PubMed Papers
21Diseases
7Drugs
7Pathogenic Variants
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingenzyme bindingendopeptidase activator activityprotein processinghidradenitis suppurativaneurodegenerative diseaseDesmoid-type fibromatosisDowling-Degos disease
✦AI Summary

PSENEN encodes the smallest essential subunit of the γ-secretase complex, an intramembrane protease that cleaves integral membrane proteins including APP and Notch receptors 1. PSENEN is indispensable for γ-secretase complex formation and enzymatic activity, with glycine 22 and proline 27 being critical for complex stabilization 1. The protein contains hairpin-structured hydrophobic membrane domains exposed to a water-containing cavity within the complex, contributing to the catalytic mechanism 1. Beyond its proteolytic role, PSENEN functions in the autophagy-lysosome system independently of γ-secretase activity, affecting lysosomal enzyme activity and autophagosome-lysosome fusion 2. PSENEN also serves as a binding partner for metformin, forming complexes with ATP6AP1 that lead to v-ATPase inhibition and AMPK activation 3. Loss-of-function mutations in PSENEN cause familial acne inversa (hidradenitis suppurativa) and Dowling-Degos disease, conditions characterized by inflammatory skin lesions and reticulate hyperpigmentation 456. Genome-wide association studies have identified PSENEN variants as risk factors for hidradenitis suppurativa, highlighting its role in epidermal keratinization through Notch and Wnt/β-catenin signaling pathways 7. The gene is co-regulated with U2AF1L4 by a bidirectional promoter, potentially important for T-cell activity regulation 8.

Sources cited
1
PSENEN is essential for γ-secretase complex formation and activity, with specific amino acids critical for complex stabilization
PMID: 38072061
2
PSENEN functions in autophagy-lysosome system independently of γ-secretase activity
PMID: 34964690
3
PSENEN binds metformin and forms complexes with ATP6AP1 leading to AMPK activation
PMID: 35197629
4
Loss-of-function PSENEN mutations cause familial acne inversa
PMID: 20929727
5
Novel PSENEN mutations identified in Chinese families with acne inversa
PMID: 27900998
6
PSENEN mutations implicated in Dowling-Degos disease pathogenesis
PMID: 33368260
7
PSENEN variants associate with hidradenitis suppurativa risk through Notch/Wnt signaling
PMID: 39645042
8
PSENEN is co-regulated with U2AF1L4 by bidirectional promoter for T-cell regulation
PMID: 23246698
Disease Associationsⓘ21
hidradenitis suppurativaOpen Targets
0.68Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
Desmoid-type fibromatosisOpen Targets
0.48Moderate
Dowling-Degos diseaseOpen Targets
0.46Moderate
neoplasmOpen Targets
0.40Weak
Alzheimer diseaseOpen Targets
0.38Weak
Parkinson diseaseOpen Targets
0.26Weak
mathematical abilityOpen Targets
0.18Weak
multiple myelomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.10Suggestive
infectionOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.07Suggestive
breast neoplasmOpen Targets
0.07Suggestive
clear cell renal carcinomaOpen Targets
0.07Suggestive
Fallopian Tube CarcinomaOpen Targets
0.07Suggestive
malignant colon neoplasmOpen Targets
0.07Suggestive
melanomaOpen Targets
0.07Suggestive
rectum cancerOpen Targets
0.07Suggestive
renal cell carcinomaOpen Targets
0.07Suggestive
Acne inversa, familial, 2, with or without Dowling-Degos diseaseUniProt
Pathogenic Variants7
NM_172341.4(PSENEN):c.35T>A (p.Leu12Ter)Pathogenic
Acne inversa, familial, 2
☆☆☆☆2017→ Residue 12
NM_172341.4(PSENEN):c.167-2A>GPathogenic
Acne inversa, familial, 2
☆☆☆☆2017
NM_172341.4(PSENEN):c.62-1G>CPathogenic
Acne inversa, familial, 2
☆☆☆☆2017
NC_000019.10:g.35746423dupPathogenic
Acne inversa, familial, 2
☆☆☆☆2017
NM_172341.4(PSENEN):c.194T>G (p.Leu65Arg)Pathogenic
Acne inversa, familial, 2
☆☆☆☆2017→ Residue 65
NM_172341.4(PSENEN):c.279del (p.Phe94fs)Pathogenic
Acne inversa, familial, 2
☆☆☆☆2010→ Residue 94
NM_172341.4(PSENEN):c.66delPathogenic
Acne inversa, familial, 2|Squamous cell lung carcinoma
☆☆☆☆2010
View on ClinVar ↗
Drug Targets7
AVAGACESTATPhase II
Gamma-secretase inhibitor
Alzheimer disease
BEGACESTATPhase I
Gamma-secretase inhibitor
Alzheimer disease
NIROGACESTATApproved
Gamma-secretase inhibitor
NIROGACESTAT HYDROBROMIDEApproved
Gamma-secretase inhibitor
RG-4733Phase II
Gamma-secretase inhibitor
breast cancer
SEMAGACESTATPhase III
Gamma-secretase inhibitor
Parkinson disease
TARENFLURBILPhase III
Gamma-secretase modulator
Alzheimer disease
Related Genes
APEHProtein interaction100%TMED10Protein interaction100%RHBDL2Protein interaction84%GSAPProtein interaction83%TNFProtein interaction81%RER1Protein interaction80%
Tissue Expression6 tissues
Brain
100%
Liver
96%
Lung
72%
Heart
65%
Ovary
50%
Bone Marrow
39%
Gene Interaction Network
Click a node to explore
PSENENAPEHTMED10RHBDL2GSAPTNFRER1
PROTEIN STRUCTURE
Preparing viewer…
PDB8KCS · 2.40 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.55Moderately Constrained
pLIⓘ
0.94Intolerant
Observed/Expected LoF0.24 [0.12–0.55]
RankingsWhere PSENEN stands among ~20K protein-coding genes
  • #4,960of 20,598
    Most Researched97 · top quartile
  • #604of 1,025
    FDA-Approved Drug Targets2
  • #3,188of 5,498
    Most Pathogenic Variants7
  • #3,548of 17,882
    Most Constrained (LOEUF)0.55 · top quartile
Genes detectedPSENEN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Low-dose metformin targets the lysosomal AMPK pathway through PEN2.
PMID: 35197629
Nature · 2022
1.00
2
A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways.
PMID: 39645042
J Am Acad Dermatol · 2025
0.90
3
Dowling-Degos disease: a review.
PMID: 33368260
Int J Dermatol · 2021
0.80
4
Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system.
PMID: 34964690
Autophagy · 2022
0.70
5
Human PSENEN and U2AF1L4 genes are concertedly regulated by a genuine bidirectional promoter.
PMID: 23246698
Gene · 2013
0.60