Wdr45L 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. [1]
| WD Repeat Domain 45 Like | |
|---|---|
| Gene Symbol | WDR45L |
| Full Name | WD Repeat Domain 45 Like |
| Chromosome | 5q13.2 |
| NCBI Gene ID | [207210](https://www.ncbi.nlm.nih.gov/gene/207210) |
| OMIM | [617185](https://www.omim.org/entry/617185) |
| Ensembl ID | ENSG00000147065 |
| UniProt ID | [Q5JWC1](https://www.uniprot.org/uniprot/Q5JWC1) |
| Associated Diseases | Neurodegeneration with Brain Iron Accumulation |
WDR45L (WD Repeat Domain 45 Like), also known as WIPI4 (WD Repeat Domain, Phosphatidylinositol 3-Phosphate-Interacting Protein 4), is a member of the WIPI protein family involved in autophagy regulation. WDR45L plays a critical role in omegasome formation and autophagosome biogenesis. Mutations in WDR45L cause a rare form of Neurodegeneration with Brain Iron Accumulation (NBIA) known as WDR45-related encephalopathy[1:1].
WDR45L is a WD40 repeat protein that functions in the autophagy pathway, specifically in the formation of autophagosomes from omegasomes. It is one of the human WIPI proteins (WIPI-1, WIPI-2, WDR45L/WIPI-4) that bind to phosphatidylinositol 3-phosphate (PI3P) on autophagic membranes.
WDR45L contains:
The WD40 repeat structure provides a scaffold for protein-protein interactions essential for autophagy machinery assembly.
WDR45L/WIPI4 functions in:
WDR45L is expressed in:
WDR45L mutations cause WDR45-related encephalopathy (also called beta-propeller protein-associated neurodegeneration, BPAN):
WDR45L represents a therapeutic target:
The study of Wdr45L 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.