Fibroblast growth factor receptor 3
From Ganfyd
Common Name:Fibroblast growth factor receptor 3
Other Names, such as IUPAC Name
FGFR-3, 2.7.10.1, CD333
Biochemical Information
Molecular Structure
Important Issues in Man
Relevant Clinical Literature
UK Guidance
Other Wikis
Medpedia on Fibroblast growth factor receptor 3 (Less technical, good quality control)
Wikipedia on Fibroblast growth factor receptor 3 (Less technical, ? quality control)
The gene FGFR3 (JTK4) at 4p16.3 codes for a 806 amino-acid pro-peptide which is processed to fibroblast growth factor receptor 3 a tyrosine kinase receptor protein with several isoforms. Defects are associated with various forms of skeletal maldevelopment including:[1]
- Achondroplasia
- Crouzon syndrome with acanthosis nigricans
- Muenke syndrome (a form of craniosynostosis)
- Thanatophoric dysplasia (usually lethal)
Abnormalities in the gene are also associated with multiple myeloma, seborrheic keratoses, bladder and cervical cancer.
