Dync1Li1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
{{infobox .infobox-gene}}
| Property | Value |
|---|---|
| Gene Symbol | DYNC1LI1 |
| Full Name | Dynein Cytoplasmic 1 Light Intermediate Chain 1 |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 1785 |
| OMIM ID | 614776 |
| Ensembl ID | ENSG00000136240 |
| UniProt ID | Q9Y4Q5 |
| Associated Diseases | Charcot-Marie-Tooth Disease, Neurodegeneration |
This page provides comprehensive information about the DYNC1LI1 gene and its role in neurodegenerative diseases. The gene encodes a protein involved in various molecular pathways relevant to Alzheimer's disease, Parkinson's disease, and related conditions.
DYNC1LI1 encodes a light intermediate chain subunit of the cytoplasmic dynein-1 complex, which is a minus-end-directed microtubule motor responsible for intracellular retrograde transport. The dynein complex transports various cargoes including vesicles, organelles, mRNAs, and protein complexes from the cell periphery toward the cell body.
In neurons, dynein-mediated transport is essential for:
Mutations in DYNC1LI1 have been associated with Charcot-Marie-Tooth disease type 2, a hereditary peripheral neuropathy characterized by progressive muscle weakness and sensory loss in the limbs.
Dynein dysfunction has been implicated in various neurodegenerative diseases including:
DYNC1LI1 is widely expressed in neuronal tissues, with high expression in:
The study of Dync1Li1 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.