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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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APH1B
aph-1B gamma-secretase subunit
Chromosome 15 · 15q22.2
NCBI Gene: 83464Ensembl: ENSG00000138613.15HGNC: HGNC:24080UniProt: Q8WW43
42PubMed Papers
20Diseases
7Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein processingprotein bindingprotein-macromolecule adaptor activityendopeptidase activator activityAlzheimer diseaseDesmoid-type fibromatosismyopiarefractive error
✦AI Summary

APH1B is a stabilizing subunit of the gamma-secretase complex that catalyzes intramembrane cleavage of proteins including amyloid precursor protein (APP) and Notch receptors 1. The protein functions as a cofactor that promotes stable complex formation, though it is present in a minority of gamma-secretase complexes compared to APH1A 1. APH1B plays a crucial role in axonal guidance by working antagonistically with BACE1 to regulate growth cone collapse through proteolytic processing of CHL1 fragments in response to semaphorin 3A signaling 2. In disease contexts, APH1B shows significant genetic associations with Alzheimer's disease risk, with multiple genome-wide association studies identifying it as a risk gene 34. Dysregulated APH1B expression in peripheral blood correlates with brain atrophy and amyloid-β deposition in Alzheimer's disease patients 5. Additionally, specific variants in APH1B are strongly associated with tau-related pathology in brain tissue 6. The gene also demonstrates oncological relevance, as it maintains stemness in cervical cancer stem cells when regulated by HPV16 E7 7 and serves as a prognostic marker in ovarian cancer 8.

Sources cited
1
APH1B functions as a stabilizing subunit of gamma-secretase complex and supports selective inhibitor development
PMID: 37164155
2
APH1B works antagonistically with BACE1 in axonal guidance through growth cone collapse regulation
PMID: 26299962
3
APH1B identified as Alzheimer's disease risk gene in genome-wide association meta-analysis
PMID: 33589840
4
APH1B associated with family history of Alzheimer's disease using neural network analysis
PMID: 39775791
5
Dysregulated APH1B expression in blood correlates with brain atrophy and amyloid-β deposition
PMID: 34732252
6
APH1B variants strongly associated with tau-related pathology in brain tissue
PMID: 39424714
7
APH1B maintains stemness in cervical cancer stem cells regulated by HPV16 E7
PMID: 31814758
8
APH1B serves as prognostic marker in ovarian cancer
PMID: 37512088
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.60Moderate
Desmoid-type fibromatosisOpen Targets
0.48Moderate
myopiaOpen Targets
0.41Moderate
refractive errorOpen Targets
0.41Moderate
neoplasmOpen Targets
0.40Moderate
late-onset Alzheimers diseaseOpen Targets
0.34Weak
Abnormality of refractionOpen Targets
0.33Weak
goutOpen Targets
0.31Weak
Parkinson diseaseOpen Targets
0.26Weak
multiple myelomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.10Suggestive
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
ovarian carcinomaOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.07Suggestive
renal cell carcinomaOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
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
NOTCH1Protein interaction93%APPProtein interaction87%TMED10Protein interaction85%NOTCH2Protein interaction72%NOTCH3Protein interaction72%NOTCH4Protein interaction72%
Tissue Expression6 tissues
Brain
100%
Ovary
73%
Lung
60%
Heart
53%
Bone Marrow
45%
Liver
17%
Gene Interaction Network
Click a node to explore
APH1BNOTCH1APPTMED10NOTCH2NOTCH3NOTCH4
PROTEIN STRUCTURE
Preparing viewer…
PDB8OQY · 3.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.33LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.97 [0.72–1.33]
RankingsWhere APH1B stands among ~20K protein-coding genes
  • #9,833of 20,598
    Most Researched42
  • #672of 1,025
    FDA-Approved Drug Targets2
  • #13,923of 17,882
    Most Constrained (LOEUF)1.33
Genes detectedAPH1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.
PMID: 33589840
Nat Genet · 2021
1.00
2
Selective inhibitors of the PSEN1-gamma-secretase complex.
PMID: 37164155
J Biol Chem · 2023
0.90
3
Genome-wide association neural networks identify genes linked to family history of Alzheimer's disease.
PMID: 39775791
Brief Bioinform · 2024
0.80
4
Dysregulated expression levels of APH1B in peripheral blood are associated with brain atrophy and amyloid-β deposition in Alzheimer's disease.
PMID: 34732252
Alzheimers Res Ther · 2021
0.70
5
Hypothesis-based investigation of known AD risk variants reveals the genetic underpinnings of neuropathological lesions observed in Alzheimer's-type dementia.
PMID: 39424714
Acta Neuropathol · 2024
0.60