FZD9
FZD9: A Crucial Protein in Bone Development and Beyond
Description:
FZD9 (Frizzled class 9) is a seven-transmembrane protein that plays a critical role in the Wnt signaling pathway, a key regulator of embryonic development and tissue homeostasis. FZD9 is expressed in various tissues, including bone, cartilage, and brain, where it mediates Wnt signaling to control cell growth, differentiation, and survival.
Associated Diseases:
Dysfunction of FZD9 has been implicated in several diseases, including:
- Osteogenesis imperfecta (OI): A genetic disorder characterized by brittle bones due to impaired bone formation. Mutations in FZD9 can lead to severe forms of OI, including lethal perinatal OI.
- Cancer: FZD9 has been associated with various cancers, such as breast, lung, and colorectal cancer. It may promote tumor growth and metastasis by altering Wnt signaling.
- Neurodevelopmental disorders: Mutations in FZD9 have been linked to intellectual disability, autism spectrum disorder, and microcephaly (a condition where the head is unusually small).
Did you Know ?
- FZD9 mutations are estimated to occur in approximately 1 in 50,000 individuals, making it one of the most common genetic causes of osteogenesis imperfecta.
