Fibroblast growth factor receptor 3
Gene involved in the most common form of dwarfism / From Wikipedia, the free encyclopedia
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Fibroblast growth factor receptor 3 is a protein that in humans is encoded by the FGFR3 gene.[5] FGFR3 has also been designated as CD333 (cluster of differentiation 333). The gene, which is located on chromosome 4, location p16.3, is expressed in tissues such as the cartilage, brain, intestine, and kidneys.[6]
The FGFR3 gene produces various forms of the FGFR3 protein; the location varies depending on the isoform of the FGFR3 protein. Since the different forms are found within different tissues the protein is responsible for multiple growth factor interactions.[7] Gain of function mutations in FGFR3 inhibits chondrocyte proliferation and underlies achondroplasia and hypochondroplasia.