WDR36

WDR36

WDR36 is a gene that encodes for the protein WD repeat-containing protein 36. This protein is involved in various cellular processes and has been linked to certain diseases. The gene is located on chromosome 5 in humans.

Function

The WDR36 protein belongs to 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 vesicular trafficking.

The exact function of WDR36 is not fully understood, but studies have suggested its involvement in the regulation of intraocular pressure (IOP). Intraocular pressure is the fluid pressure inside the eye, and abnormal levels of IOP can lead to glaucoma, a group of eye diseases that can cause vision loss or blindness. Mutations in the WDR36 gene have been found in some individuals with primary open-angle glaucoma, a common form of glaucoma.

Clinical Significance

Mutations in the WDR36 gene have been associated with primary open-angle glaucoma (POAG), a condition characterized by increased IOP and progressive damage to the optic nerve. POAG is a complex disease influenced by both genetic and environmental factors. While mutations in WDR36 are relatively rare and account for a small percentage of POAG cases, they provide valuable insights into the underlying mechanisms of the disease.

References

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See Also

• Glaucoma
• Chromosome 5
• Protein-protein interaction
• Signal transduction
• Cell cycle regulation
• Vesicular trafficking