CCDC88C (gene)

CCDC88C (Coiled-Coil Domain Containing 88C), also known as DAPLE (Dvl Antagonistic Protein with a High Frequency of Leucine Residues), is a gene that encodes a protein involved in the regulation of cell polarity and migration. This gene is located on the long (q) arm of chromosome 14 at position 32.2.

Function

The CCDC88C gene provides instructions for making a protein that is involved in the regulation of cell polarity and migration. This protein, also known as DAPLE, interacts with a protein called Dishevelled (Dvl), which plays a key role in the Wnt signaling pathway, a series of steps that affect the way cells and tissues develop. By interacting with Dvl, DAPLE can inhibit the Wnt signaling pathway, thereby influencing cell polarity and migration.

Clinical significance

Mutations in the CCDC88C gene have been associated with various neurological disorders, including epilepsy, autism, and schizophrenia. Studies have shown that these mutations can disrupt the normal function of the DAPLE protein, leading to abnormalities in cell polarity and migration. This can affect the development and function of the nervous system, potentially leading to neurological disorders.

Research

Research on the CCDC88C gene and its associated protein, DAPLE, is ongoing. Scientists are particularly interested in understanding how mutations in this gene can lead to neurological disorders, and whether targeting this gene could be a potential therapeutic strategy for these conditions.

See also

• Coiled coil
• Cell polarity
• Cell migration
• Wnt signaling pathway
• Dishevelled
• Neurological disorder
• Epilepsy
• Autism
• Schizophrenia

References

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