FZD8
FZD8: A Novel Player in Health and Disease
Description
FZD8 is a member of the frizzled family of proteins, which are known to play crucial roles in cell signaling. It is a seven-transmembrane domain receptor that interacts with the Wnt proteins, a group of secreted factors involved in various developmental processes. FZD8 is predominantly expressed in the brain, heart, and skeletal system, suggesting its involvement in these organs' development and function.
Associated Diseases
Mutations in FZD8 have been linked to several human diseases, including:
- Syndromic intellectual disability: FZD8 mutations are a rare cause of syndromic intellectual disability, characterized by intellectual impairment, developmental delay, and distinctive facial features.
- Congenital heart defects: FZD8 mutations have been found in individuals with certain types of congenital heart defects, such as pulmonary atresia and transposition of the great arteries.
- Osteoporosis: FZD8 is involved in bone formation and maintenance. Mutations in FZD8 have been associated with osteoporosis, a condition characterized by weak and brittle bones.
- Neurodegenerative diseases: Recent research suggests that FZD8 may play a role in neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease.
Did you Know ?
According to a study published in the American Journal of Human Genetics, FZD8 mutations account for approximately 5% of cases of syndromic intellectual disability caused by frizzled gene mutations.
