Wd repeat containing planar cell polarity effector

Wd repeat containing planar cell polarity effector (also known as Wdpcp) is a protein that in humans is encoded by the WDPCP gene. This protein is a key component in the planar cell polarity (PCP) pathway, which is essential for the establishment and maintenance of uniform orientations of cells within the plane of a tissue.

Function

The Wdpcp protein is involved in the regulation of cilia formation and function. Cilia are small, hair-like structures present on the surface of all mammalian cells. They are involved in many physiological processes, including sensory perception, cell signaling, and cell movement. Wdpcp is required for the proper orientation and coordinated movement of cilia, which is critical for the flow of mucus and other fluids across the surface of certain tissues.

Clinical significance

Mutations in the WDPCP gene have been associated with a variety of human diseases, including Bardet-Biedl syndrome, Meckel syndrome, and congenital heart disease. These conditions are characterized by a wide range of symptoms, including obesity, intellectual disability, kidney disease, and abnormalities in the structure and function of the heart.

Research

Research on Wdpcp has provided valuable insights into the molecular mechanisms underlying the PCP pathway and its role in human disease. However, many questions remain unanswered, and further studies are needed to fully understand the function of this protein and its potential as a therapeutic target.

See also

• Planar cell polarity
• Cilia
• Bardet-Biedl syndrome
• Meckel syndrome
• Congenital heart disease

References

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