Fibroblast growth factor receptor 3

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Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Fibroblast growth factor receptor 3 is a protein that in humans is encoded by the FGFR3 gene.[1] FGFR3 has also been designated as CD333 (cluster of differentiation 333).

Structure and function

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 which ultimately influencing cell mitogenesis and differentiation.

This particular family member binds both acidic and basic fibroblast growth factor and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia (Osteochondrodysplasia). 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.[2]

The structure of the autophosphorylation of the kinase insert domain tyrosine residue, Tyr577, has been identified in PDB entry 4K33.[3] This structure is very similar to the autophosphorylation complex of FGFR1[4] as shown by a structural bioinformatics analysis.[5]

Disease linkage

Defects in the FGFR3 gene has been associated with several conditions, including:

Interactions

Fibroblast growth factor receptor 3 has been shown to interact with FGF1[9][10] and FGF9.[9][10]

See also

References

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Further reading

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External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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