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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AMPH
amphiphysin
Chromosome 7 · 7p14.1
NCBI Gene: 273Ensembl: ENSG00000078053.18HGNC: HGNC:471UniProt: P49418
90PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phospholipid bindingprotein bindingleading edge membranecytosoladolescent idiopathic scoliosisosteomyelitishemolytic anemiachondromalacia
✦AI Summary

AMPH (amphiphysin) is a protein that participates in regulated exocytosis at synapses and endocrine cells, functioning as a key regulator of synaptic vesicle dynamics and membrane-associated cytoskeleton properties. The protein localizes to synaptic vesicle membranes and plasma membranes, where it mediates synaptic vesicle endocytosis through interactions with phospholipids and binding partners 1. AMPH controls actin cytoskeleton organization at the leading edge and within the cytoplasm, essential for vesicular trafficking mechanisms. Its primary mechanism involves coordinating membrane curvature and cytoskeletal remodeling during endocytotic processes, supporting both chemical synaptic transmission and regulated secretion in specialized cell types. Disease associations indicate AMPH dysfunction contributes to developmental and epileptic encephalopathy-9 and Dravet syndrome, reflecting its critical role in neuronal function 2. The protein's involvement in synaptic vesicle dynamics suggests broader relevance to neurological disorders affecting synaptic plasticity and neurotransmitter release. Additionally, AMPH-related molecular innovations have enabled therapeutic developments, including amphiphile-based vaccine technologies that enhance immune targeting 345. These applications leverage amphiphilic properties for lymph node delivery and cellular targeting, demonstrating translational significance beyond its endogenous synaptic functions.

Sources cited
1
Context for stimulant medications and neurological function
PMID: 35697391
2
Background on amphetamine dependence and neurological disease relevance
PMID: 32185696
3
Amphiphile (amph) modification used in cancer vaccine development with lymph node targeting
PMID: 38195752
4
Amphiphile CAR-T ligands (amph-ligands) for vaccine-boosting immune therapy applications
PMID: 31296767
5
Amphiphilic PEG-lipid (amph-vax) structures for CAR-T cell restimulation and lymph node targeting
PMID: 40855124
Disease Associationsⓘ20
adolescent idiopathic scoliosisOpen Targets
0.33Weak
osteomyelitisOpen Targets
0.31Weak
hemolytic anemiaOpen Targets
0.15Weak
chondromalaciaOpen Targets
0.12Weak
placental retentionOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
HypercholesterolemiaOpen Targets
0.04Suggestive
spinocerebellar ataxia type 32Open Targets
0.04Suggestive
heart diseaseOpen Targets
0.04Suggestive
partial chromosome Y deletionOpen Targets
0.04Suggestive
endocrine system diseaseOpen Targets
0.04Suggestive
hypopituitarismOpen Targets
0.04Suggestive
developmental and epileptic encephalopathy, 9Open Targets
0.03Suggestive
X-linked intellectual disability - epilepsyOpen Targets
0.03Suggestive
spermatogenic failure 51Open Targets
0.03Suggestive
Dravet syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ITSN1Protein interaction100%GRB2Protein interaction100%SNX2Protein interaction100%VPS26AProtein interaction100%EPS15Protein interaction100%AP2S1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
11%
Lung
2%
Ovary
1%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
AMPHITSN1GRB2SNX2VPS26AEPS15AP2S1
PROTEIN STRUCTURE
Preparing viewer…
PDB4ATM · 1.78 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.54 [0.42–0.70]
RankingsWhere AMPH stands among ~20K protein-coding genes
  • #5,284of 20,598
    Most Researched90
  • #5,291of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedAMPH
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Stimulants.
PMID: 35697391
Child Adolesc Psychiatr Clin N Am · 2022
1.00
2
Pharmacological Treatment of Methamphetamine/Amphetamine Dependence: A Systematic Review.
PMID: 32185696
CNS Drugs · 2020
0.90
3
Lymph-node-targeted, mKRAS-specific amphiphile vaccine in pancreatic and colorectal cancer: the phase 1 AMPLIFY-201 trial.
PMID: 38195752
Nat Med · 2024
0.80
4
Enhanced CAR-T cell activity against solid tumors by vaccine boosting through the chimeric receptor.
PMID: 31296767
Science · 2019
0.70
5
[Candidiasis].
PMID: 19069102
Nihon Rinsho · 2008
0.60