| Gene Symbol | Fgfr3 |
| Entrez Gene ID | 14184 |
| Full Name | fibroblast growth factor receptor 3 |
| Synonyms | CD333,FR3,Fgfr-3,Flg-2,HBGFR,Mfr3,sam3 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Mus musculus(house mouse) |
| Genome | |
| Summary | This gene encodes a member of the fibroblast growth factor receptor family. Members of this family are highly conserved proteins that differ from one another in their ligand affinities and tissue distribution. A representative protein consists 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 family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene may be associated with craniosynostosis and multiple types of skeletal dysplasia. A pseudogene of this gene is located on chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]. |
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