FZD4 : frizzled class receptor 4

Description

The FZD4 (frizzled class receptor 4) is a protein-coding gene located on chromosome 11.

The FZD4 gene provides instructions for making a protein called frizzled-4, which is embedded in the outer membrane of many types of cells. Frizzled-4 plays a crucial role in transmitting chemical signals from outside the cell to the cell's nucleus, specifically participating in the Wnt signaling pathway. This pathway is essential for various cellular processes, including cell division, attachment, and movement. Frizzled-4 interacts with a protein called norrin at the cell surface, and this interaction initiates a series of steps that regulate gene activity. During early development, signaling by norrin and frizzled-4 is crucial for the specialization of cells in the retina, and this pathway is also involved in blood vessel formation in the retina and the inner ear.

FZD4 is a receptor for Wnt proteins and plays a crucial role in the Wnt signaling pathway, a series of steps that influence cell development and function. The Wnt pathway, often referred to as the canonical pathway, leads to the activation of disheveled proteins, the inhibition of GSK-3 kinase, and the accumulation of beta-catenin in the nucleus, ultimately activating Wnt target genes. FZD4 also plays a key role in retinal vascularization by acting as a receptor for both Wnt proteins and norrin (NDP). FZD4 can be activated through either Wnt protein binding or Wnt-independent signaling by norrin binding, both of which lead to the accumulation of beta-catenin and the stimulation of LEF/TCF-mediated transcription programs. A second signaling pathway, involving PKC and calcium fluxes, has been observed for other members of the frizzled receptor family, but its relationship to the canonical pathway is still unclear. It is believed that both pathways involve interactions with G-proteins. FZD4 may also be involved in the transmission of polarity information during tissue morphogenesis and in differentiated tissues.

FZD4 is also known as CD344, EVR1, FEVR, FZD4S, Fz-4, Fz4, FzE4, GPCR, hFz4.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing