WDFY3
Description
The WDFY3 (WD repeat and FYVE domain containing 3) is a protein-coding gene located on chromosome 4.
WDFY3 (WD repeat and FYVE domain-containing protein 3) is a protein encoded by the WDFY3 gene in humans. It contains WD repeats and an FYVE domain, suggesting its involvement in protein interactions and membrane association. Multiple variants of this gene have been identified, but not all are fully characterized. WDFY3 functions as a scaffolding protein in autophagy, a process that breaks down cellular components. Mutations in this gene have been linked to neurodevelopmental delays, intellectual disability, macrocephaly, and psychiatric disorders like autism spectrum disorders and attention deficit hyperactivity disorder.
WDFY3 is essential for selective autophagy, a process that removes damaged or unwanted cellular components. It acts as a bridge, connecting proteins targeted for degradation to the core machinery of autophagy. This includes components like ATG5-ATG12-ATG16L, SQSTM1, and LC3. Alongside p62/SQSTM1, WDFY3 participates in the formation and degradation of cellular debris marked for disposal. This protein also works with SQSTM1 to guide ubiquitinated proteins to specific compartments within the nucleus. Importantly, WDFY3 plays a critical role in brain development, ensuring the proper formation of nerve pathways and the ability of neurons to respond to guidance cues. It also regulates Wnt signaling, a pathway crucial for brain size determination. WDFY3 may also influence bone development by acting on the TNFSF11/RANKL-TRAF6 pathway. Finally, it participates in the breakdown of remnants after cell division.
WDFY3 is also known as ALFY, BCHS, MCPH18, ZFYVE25.
