Frizzled-4

Frizzled-4 is a protein that in humans is encoded by the FZD4 gene. It is a member of the Frizzled family, which is a group of seven transmembrane domain proteins that serve as receptors in the Wnt signaling pathway. The proteins in the Frizzled family are characterized by a cysteine-rich domain in their extracellular region and seven transmembrane domains.

Function

Frizzled-4 is a receptor for Wnt proteins, and it mediates the canonical Wnt pathway and the non-canonical Wnt pathway. The canonical Wnt pathway leads to the stabilization of beta-catenin, which enters the nucleus and activates the transcription of target genes. The non-canonical Wnt pathway, on the other hand, does not involve beta-catenin and is implicated in the regulation of cell polarity and cell movement.

Clinical significance

Mutations in the FZD4 gene have been associated with familial exudative vitreoretinopathy, a disease affecting the retina of the eye. This condition is characterized by an abnormal growth of blood vessels in the retina, leading to vision loss.

See also

• Frizzled
• Wnt signaling pathway
• Beta-catenin
• Cell polarity
• Cell movement
• Vitreoretinopathy

References

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