FGFR3

Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism), also known as FGFR3, is a human gene. FGFR3 has also been designated as CD333 (cluster of differentiation 333).

tructure and function

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summary_text = 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. [cite web | title = Entrez Gene: FGFR3 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2261| accessdate = ]

Disease linkage

Defects in the FGFR3 gene has been associated with several conditions, including:
* achondroplasia/hypochondroplasia
* thanatophoric dwarfism
* seborrheic keratosiscite journal |author=Hafner C, Hartmann A, Vogt T |title=FGFR3 mutations in epidermal nevi and seborrheic keratoses: lessons from urothelium and skin |journal=J. Invest. Dermatol. |volume=127 |issue=7 |pages=1572–3 |year=2007 |pmid=17568799 |doi=10.1038/sj.jid.5700772]
* bladder cancercite journal |author=Lamy A, Gobet F, Laurent M, "et al" |title=Molecular profiling of bladder tumors based on the detection of FGFR3 and TP53 mutations |journal=J. Urol. |volume=176 |issue=6 Pt 1 |pages=2686–9 |year=2006 |pmid=17085196 |doi=10.1016/j.juro.2006.07.132]

ee also

* Cluster of differentiation
* Fibroblast growth factor receptor

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Schweitzer DN, Graham JM, Lachman RS, "et al." |title=Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. |journal=Am. J. Med. Genet. |volume=98 |issue= 1 |pages= 75–91 |year= 2001 |pmid= 11426459 |doi=
*cite journal | author=Horton WA, Lunstrum GP |title=Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. |journal=Reviews in endocrine & metabolic disorders |volume=3 |issue= 4 |pages= 381–5 |year= 2003 |pmid= 12424440 |doi=
*cite journal | author=Bonaventure J, Silve C |title= [Hereditary skeletal dysplasias and FGFR3 and PTHR1 signaling pathways] |journal=Med Sci (Paris) |volume=21 |issue= 11 |pages= 954–61 |year= 2006 |pmid= 16274647 |doi=
*cite journal | author=Hernández S, Toll A, Baselga E, "et al." |title=Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors. |journal=J. Invest. Dermatol. |volume=127 |issue= 7 |pages= 1664–6 |year= 2007 |pmid= 17255960 |doi= 10.1038/sj.jid.5700705
*cite journal | author=Olsen SK, "et al." |title=Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity. |journal=PNAS USA |volume=101 |issue=4 |pages=935–40 |year= 2004 |pmid=14732692 |doi=

External links

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