gene 980 words KG: APH1A 2026-03-21
kind:genesection:genesstate:published
Contents

APH1A Gene - Anterior Pharynx Defective 1 Homolog A

🧬 Gene Info
Gene SymbolAPH1A
AliasesPage for APH1A Gene, Page for APH1A Protein
Chromosome1p36.22
Protein FamilyAph-1 family (gamma-secretase)
Function### Gamma-Secretase Complex Component
Primary ExpressionBrain (cerebral cortex, hippocampus, cerebellum), Heart, Liver, Kidney, Pancreas
Subcellular LocalizationEndoplasmic reticulum, Golgi, plasma membrane
Molecular Weight28.5 kDa
Amino Acids257 aa
Pathwaysnotch, Notch signaling
UniProt IDQ9Y6X0
NCBI Gene ID269
Ensembl IDENSG00000144024
OMIM607629
GeneCardsAPH1A
Human Protein AtlasAPH1A
Associated DiseasesAlzheimer's Disease, Familial Alzheimer's Disease
InteractionsAPH1B, PSEN1, PSEN2
KG Connections7 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph

Related Hypotheses (7)

Synthetic Biology BBB Endothelial Cell Reprogramming
Score: 0.57
Circadian-Synchronized LRP1 Pathway Activation
Score: 0.53
Engineered Apolipoprotein E4-Neutralizing Shuttle Peptides
Score: 0.51
CYP46A1 Overexpression Gene Therapy
Score: 0.63
APOE Isoform Expression Across Glial Subtypes
Score: 0.48

Related Analyses (3)

Neuroinflammation resolution mechanisms and pro-resolving me
neurodegeneration · archived
Lipid raft composition changes in synaptic neurodegeneration
neurodegeneration · completed
Circuit-level neural dynamics in neurodegeneration
neuroscience · archived

Related Experiments (2)

ER-Golgi Secretory Pathway Dysfunction in PD - Experiment De
clinical · proposed · Score: 0.40
Cytochrome Therapeutics
clinical · proposed · Score: 0.40

See Also (15)

Neurodegeneration
disease · KG edge: implicated_in
Wnt/β-Catenin Signaling Pathway in Neurodegeneration
mechanism · Pages share 3 hypotheses
WNK1 Kinase in Neurodegeneration
mechanism · Pages share 3 hypotheses
WNK1-Bilirubin Signaling in Neuroinflammation and Neuro
mechanism · Pages share 3 hypotheses
vip-vasoactive-intestinal-peptide-signaling-neurodegene
mechanism · Pages share 3 hypotheses

Knowledge Graph (7 edges)

APH1A inhibits APH1B
APH1A inhibits PSEN1
APH1A inhibits PSEN2
APH1A data_in benchmark_ot_ad_answer_key:APH1A
APH1A provides_data_for ds-83b31ef18d49
benchmark_ot_ad_answer_key:APH1A data_in APH1A
ds-83b31ef18d49 data_in APH1A