FGFR3

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Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism), also known as FGFR3, is a human gene.

The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. 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. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Alternative splicing occurs and additional variants have been described, including those utilizing alternate exon 8 rather than 9, but their full-length nature has not been determined.^[1]

FGFR3 has been associated with several conditions, including:

• achondroplasia/hypochondroplasia
• thanatophoric dwarfism
• seborrheic keratosis^[2]
• bladder cancer^[3]

See also

• Cluster of differentiation
• Fibroblast growth factor receptor

References

1. ↑ Entrez Gene: FGFR3 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism).
2. ↑ Hafner C, Hartmann A, Vogt T (2007). "FGFR3 mutations in epidermal nevi and seborrheic keratoses: lessons from urothelium and skin". J. Invest. Dermatol. 127 (7): 1572-3. doi:10.1038/sj.jid.5700772. PMID 17568799.
3. ↑ Lamy A, Gobet F, Laurent M, et al (2006). "Molecular profiling of bladder tumors based on the detection of FGFR3 and TP53 mutations". J. Urol. 176 (6 Pt 1): 2686-9. doi:10.1016/j.juro.2006.07.132. PMID 17085196.

Further reading

External links

• MeSH FGFR3+protein,+human

Template:Membrane-protein-stub This article incorporates text from the United States National Library of Medicine, which is in the public domain.