Frizzled-9

Frizzled-9 is a protein that in humans is encoded by the FZD9 gene. It is a member of the Frizzled family, which are integral membrane proteins that function as receptors in Wnt signaling.

Function

Frizzled-9 is a receptor for Wnt proteins. Wnt proteins are a family of secreted signaling molecules that play crucial roles in cell-to-cell communication during embryogenesis. This protein is involved in the signal transduction pathway that is activated by binding to Wnt proteins, leading to the activation of dishevelled proteins, inhibition of the beta-catenin degradation complex, and subsequent accumulation of beta-catenin in the nucleus, where it can stimulate the transcription of target genes.

Clinical significance

Mutations in the FZD9 gene have been associated with Williams syndrome, a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.

See also

• Frizzled
• Wnt signaling pathway
• Williams syndrome

External links

• NCBI Gene
• UniProt