| Gene Symbol | ANK1 |
| Full Name | Ankyrin 1 |
| Function | Ankyrin 1 is a membrane-associated protein that serves as a critical anchor between the plasma membrane and the underlying cytoskeleton. |
| Primary Expression | Substantia Nigra |
| Molecular Weight | 210 kDa |
| Pathways | Alpha-Synuclein |
| Ensembl ID | ENSG00000162678 |
| GeneCards | ANK1 |
| Human Protein Atlas | ANK1 |
| Cytoskeletal Linkage | ANK1 links integral membrane proteins to the spectrin-actin skeleton, providing structural stability to neuronal membranes. |
| Axonal Transport | The ankyrin-spectrin skeleton facilitates axonal transport by providing tracks for motor proteins and maintaining cargo organization. |
| Glial Function | In astrocytes, ANK1 helps organize water channels (AQP4) and Kir4.1 potassium channels at perivascular endfeet, crucial for blood-brain barrier function and potassium buffering. |
| Membrane Integrity | ANK1 variants may affect neuronal membrane stability, making neurons more vulnerable to amyloid-beta (Aβ) toxicity. |
| Synaptic Function | ANK1 is involved in organizing postsynaptic receptor complexes, and dysregulation may contribute to synaptic dysfunction in AD. |
| Astrocyte Reactivity | ANK1 expression is altered in reactive astrocytes surrounding amyloid plaques, suggesting a role in neuroinflammation. |
| Associated Diseases | Alzheimer, Parkinson |
| KG Connections | 31 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |