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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GSAP
gamma-secretase activating protein
Chromosome 7 · 7q11.23
NCBI Gene: 54103Ensembl: ENSG00000186088.17HGNC: HGNC:28042UniProt: A4D1B5
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
amyloid-beta bindingprotein bindingregulation of proteolysispositive regulation of amyloid-beta formationallergic rhinitisEczematoid dermatitisallergic diseaseasthma
✦AI Summary

GSAP (gamma-secretase activating protein) is a selective modulator of γ-secretase activity that specifically enhances amyloid-β (Aβ) production without affecting other γ-secretase substrates like Notch 1. The protein derives from a larger 98 kDa precursor through caspase-3-mediated cleavage, generating a biologically active 16 kDa C-terminal fragment (GSAP-16K) 2. GSAP-16K undergoes phase separation and forms cellular condensates that modulate APP-C99 cleavage, with dilute phase promoting Aβ42 production while condensates sequester substrate 3. The protein directly interacts with APP-C99 fragments, particularly binding to amino acids 719-743 with high affinity (Kd = 0.136 μM) 4. Beyond amyloid processing, GSAP regulates lipid homeostasis and mitochondrial function through its enrichment in mitochondria-associated membranes (MAM) and interaction with the Fe65-APP complex 5. GSAP is degraded via the ubiquitin-proteasome system with a half-life of approximately 5 hours 6. Genetic variants in the GSAP promoter correlate with brain expression levels and Alzheimer's disease risk, particularly in APOE4 non-carriers 1. These findings establish GSAP as a critical regulator of amyloidogenic processing and a potential therapeutic target for Alzheimer's disease.

Sources cited
1
GSAP specifically increases Aβ production without affecting Notch cleavage and genetic variants associate with AD risk
PMID: 25037285
2
GSAP derives from 98 kDa precursor via caspase-3 cleavage to generate active 16 kDa fragment
PMID: 25052851
3
GSAP-16K undergoes phase separation and modulates APP-C99 cleavage with dual effects on Aβ production
PMID: 35298330
4
GSAP directly binds APP-C99 fragments with high affinity (Kd = 0.136 μM) at amino acids 719-743
PMID: 31299145
5
GSAP regulates lipid homeostasis and mitochondrial function through MAM enrichment and Fe65-APP interaction
PMID: 34156424
6
GSAP is degraded via ubiquitin-proteasome system with 5-hour half-life
PMID: 25533523
Disease Associationsⓘ20
allergic rhinitisOpen Targets
0.47Moderate
Eczematoid dermatitisOpen Targets
0.45Moderate
allergic diseaseOpen Targets
0.42Moderate
asthmaOpen Targets
0.42Moderate
obesityOpen Targets
0.41Moderate
Abnormality of the skeletal systemOpen Targets
0.39Weak
metabolic syndromeOpen Targets
0.34Weak
overnutritionOpen Targets
0.33Weak
pigment dispersion syndromeOpen Targets
0.33Weak
pigmentary glaucomaOpen Targets
0.33Weak
type 2 diabetes mellitusOpen Targets
0.33Weak
deep vein thrombosisOpen Targets
0.33Weak
respiratory system diseaseOpen Targets
0.33Weak
Phenotypic abnormalityOpen Targets
0.33Weak
Abnormal thrombosisOpen Targets
0.32Weak
Abruptio PlacentaeOpen Targets
0.32Weak
adolescent idiopathic scoliosisOpen Targets
0.29Weak
ocular hypotensionOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.29Weak
Alzheimer diseaseOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
APPProtein interaction91%PSEN1Protein interaction89%PSENENProtein interaction83%NCSTNProtein interaction83%APH1AProtein interaction76%SERPINB4Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
78%
Liver
63%
Heart
26%
Ovary
24%
Brain
10%
Gene Interaction Network
Click a node to explore
GSAPAPPPSEN1PSENENNCSTNAPH1ASERPINB4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A4D1B5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.83 [0.59–1.20]
RankingsWhere GSAP stands among ~20K protein-coding genes
  • #15,275of 20,598
    Most Researched16
  • #12,609of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedGSAP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Modulation of amyloid precursor protein cleavage by γ-secretase activating protein through phase separation.
PMID: 35298330
Proc Natl Acad Sci U S A · 2022
1.00
2
GSAP regulates lipid homeostasis and mitochondrial function associated with Alzheimer's disease.
PMID: 34156424
J Exp Med · 2021
0.90
3
Tracing the GSAP-APP C-99 Interaction Site in the β-Amyloid Pathway Leading to Alzheimer's Disease.
PMID: 31299145
ACS Chem Neurosci · 2019
0.80
4
Gamma secretase-activating protein is a substrate for caspase-3: implications for Alzheimer's disease.
PMID: 25052851
Biol Psychiatry · 2015
0.70
5
To Explore the Binding Affinity of Human γ-Secretase Activating Protein (GSAP) Isoform 4 with APP-C99 Peptides.
PMID: 37065030
ACS Omega · 2023
0.60