WDR47

WDR47

WDR47 is a gene that encodes a protein called WD repeat domain 47. This protein is found in humans and is involved in various cellular processes. The WDR47 gene is located on chromosome 17 and is conserved across different species.

Function

The WD repeat domain 47 protein is a member of the WD repeat family, which is characterized by the presence of multiple copies of a conserved sequence motif called the WD repeat. These repeats are involved in protein-protein interactions and play a crucial role in various cellular processes, including signal transduction, cell cycle regulation, and protein folding.

The exact function of WDR47 is not fully understood, but studies have suggested its involvement in several biological processes. It has been implicated in the regulation of gene expression, particularly in the control of transcription and RNA processing. WDR47 has also been shown to interact with other proteins involved in cellular transport and vesicle trafficking.

Clinical Significance

Mutations in the WDR47 gene have been associated with a rare genetic disorder called Pontocerebellar Hypoplasia Type 2E (PCH2E). This disorder is characterized by underdevelopment of the cerebellum and pons, leading to severe neurological abnormalities. Individuals with PCH2E may experience developmental delay, intellectual disability, movement disorders, and respiratory problems.

The identification of WDR47 mutations in PCH2E patients has provided valuable insights into the role of this gene in brain development and function. Further research is needed to fully understand the molecular mechanisms underlying the pathogenesis of PCH2E and the specific role of WDR47 in these processes.

See Also

• Gene
• Protein
• WD repeat domain
• Pontocerebellar Hypoplasia Type 2E