Depdc5 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.
The DEPDC5 gene (DEP Domain Containing 5) encodes a member of the DEP (Disheveled, Egl-10, Pleckstrin) domain-containing protein family. DEPDC5 is a component of the GATOR1 complex, a critical regulator of amino acid sensing and mTORC1 signaling. Mutations in DEPDC5 cause autosomal dominant focal epilepsy and are implicated in various neurodegenerative processes. [1]
| Attribute | Value | [2]
|-----------|-------| [3]
| Symbol | DEPDC5 | [4]
| Full Name | DEP Domain Containing 5 | [5]
| Chromosomal Location | 22q12.2 | [6]
| NCBI Gene ID | 9169 | [7]
| Ensembl ID | ENSG00000048991 |
| UniProt | O75157 |
DEPDC5 is a 1623-amino acid protein with:
DEPDC5 functions as a key regulator of mTORC1 signaling:
DEPDC5 is ubiquitously expressed with highest levels in:
In the brain:
The study of Depdc5 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.