CING1 (Cingulin 1) is a cytoskeletal protein originally identified at the cytoplasmic surface of tight junctions. While primarily studied in epithelial cells, CING1 has been detected in neuronal tissues and may play roles in cytoskeletal organization relevant to neurodegenerative processes.
| Cingulin | |
|---|---|
| Gene Symbol | CING1 |
| Full Name | Cingulin |
| Chromosome | 7p21.1 |
| NCBI Gene ID | 10484 |
| OMIM | 604267 |
| Ensembl ID | ENSG00000152240 |
| UniProt ID | Q9Z2X1 |
| Associated Diseases | Neurodegeneration, Brain Development |
CING1 encodes a tight junction-associated protein originally characterized in epithelial cells. In neurons, cingulin is localized to the postsynaptic density and may play roles in synaptic organization and neuronal polarity. The protein interacts with cytoskeletal components and signaling molecules at synaptic junctions. Recent studies suggest potential roles in neurodegenerative processes through synaptic dysfunction.
Expressed in brain with localization to neuronal synapses. Also expressed in epithelial cells of various tissues.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Neurodegeneration | Various | Risk factor | Potential synaptic dysfunction |
| Brain Development | Various | Various | Neuronal polarity defects |