WDR45 : WD repeat domain 45
Description
The WDR45 (WD repeat domain 45) is a protein-coding gene located on chromosome X.
The WDR45 gene provides instructions for making the WIPI4 protein, which has a distinctive seven-bladed propeller structure. WIPI4 is crucial for the early stages of autophagy, a cellular process that cleanses cells of unwanted materials. It regulates the production and growth of autophagosomes, tiny compartments that enclose waste products. These autophagosomes are then delivered to lysosomes, the cell's recycling centers, for breakdown.
WDR45, also known as WIPI4, is a key component of the autophagy machinery, playing a vital role in the cellular process of breaking down and recycling worn-out cellular components. It binds to phosphatidylinositol 3-phosphate (PtdIns3P), a signaling molecule, and is activated by the STK11/AMPK signaling pathway in response to starvation. WDR45 acts downstream of WIPI2, regulating the size of autophagosomes, the structures that encapsulate cellular debris for degradation. Working alongside WIPI1, WDR45 promotes lipid transfer mediated by ATG2, enhancing ATG2's association with membranes containing PI3P. This recruitment to membranes is likely facilitated by its PtdIns3P binding activity.
WDR45 is also known as JM5, NBIA4, NBIA5, WDRX1, WIPI-4, WIPI4.
Associated Diseases
- Albinism, oculocutaneous, type V
- Beta-propeller protein-associated neurodegeneration
- Infantile spasms syndrome
- Neurodegeneration with brain iron accumulation 5
