FZD4

FZD4 (Frizzled-4) is a protein that in humans is encoded by the FZD4 gene. It is a member of the Frizzled family, which are 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD4 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD4 receptor is involved in multiple developmental processes including neurogenesis, cardiogenesis, and angiogenesis.

Function

The FZD4 gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role in the development of retinal vasculature and neovascularization. This gene is linked to Familial exudative vitreoretinopathy (FEVR), a disease characterized by incomplete vascularization of the peripheral retina.

Clinical significance

Mutations in the FZD4 gene have been associated with familial exudative vitreoretinopathy, a disease characterized by a failure of peripheral retinal vascularization. In addition, the FZD4 gene has been implicated in Coats disease, a form of retinal telangiectasia.

See also

• Frizzled
• Familial exudative vitreoretinopathy
• Coats disease

External links

• FZD4 at the National Center for Biotechnology Information

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