Beyond Achondroplasia

Growing together with Clara


As you can read at the begining of the abstract of this great review:

“Research on the mutation in Fibroblast Growth Factor Receptor 3 (FGFR3) that causes achondroplasia suggests that disease results from increased signal transduction from the mutant receptor. Thus, current therapeutic strategies have focused on reducing signals emanating from FGFR3”.

But what is FGFR3?

Fibroblast growth factor receptor 3
Location: 4p16.3
Gene size: 14,976 bp

Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance.. Three alternatively spliced transcript variants that encode different protein isoforms have been described.


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