Dab2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
DAB2 (Disabled Clathrin Adaptor Protein) is a clathrin-associated adaptor protein that regulates endocytosis and signal transduction. DAB2 plays important roles in synaptic function, amyloid precursor protein (APP) processing, and tau phosphorylation. Altered DAB2 expression has been observed in Alzheimer's disease brains.
| Disabled 2, Clathrin Adaptor Protein | |
|---|---|
| Gene Symbol | DAB2 |
| Full Name | Disabled 2, Clathrin Adaptor Protein |
| Chromosome | 5p13.2 |
| NCBI Gene ID | 1601 |
| OMIM | 604241 |
| Ensembl ID | ENSG00000153046 |
| UniProt ID | P98073 |
| Associated Diseases | Alzheimer's Disease, Cancer |
DAB2 encodes a clathrin-associated adaptor protein that functions in clathrin-mediated endocytosis. It contains an N-terminal phosphotyrosine-binding (PTB) domain that binds to the NPXY motif in cargo receptors. DAB2 is involved in receptor internalization and trafficking, particularly for the LDL receptor family. It also has roles in cell signaling and cell morphology.
Expressed in most tissues with high expression in brain, particularly in neurons.
| Disease | Role | Mechanism |
|---|---|---|
| May Alzheimer's Disease | Protective affect amyloid precursor protein processing and clearance |
The study of Dab2 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.