WDR46

WDR46

WDR46 is a gene that encodes a protein called WD repeat domain 46. This protein is found in humans and is involved in various cellular processes. The WDR46 gene is located on chromosome 1 and is conserved across different species.

Function

The WDR46 protein belongs to the WD repeat domain 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 WDR46 is not fully understood, but studies have suggested its involvement in ribosome biogenesis and RNA processing. It has been shown to interact with other proteins involved in these processes, such as nucleolar protein 3 (NOL3) and nucleolar protein 4 (NOL4). These interactions suggest that WDR46 may play a role in the assembly and maturation of ribosomes, which are essential for protein synthesis.

Clinical Significance

Mutations in the WDR46 gene have been associated with certain genetic disorders. For example, mutations in WDR46 have been found in individuals with pontocerebellar hypoplasia type 2 (PCH2), a rare neurodegenerative disorder characterized by underdevelopment of the brainstem and cerebellum. These mutations are thought to disrupt the normal function of WDR46, leading to impaired ribosome biogenesis and subsequent neurodevelopmental abnormalities.

See Also

• Ribosome biogenesis
• RNA processing
• Pontocerebellar hypoplasia