Gene Symbol | FGFR3 |
Entrez Gene ID | 2261 |
Full Name | fibroblast growth factor receptor 3 |
Synonyms | ACH,CD333,CEK2,HSFGFR3EX,JTK4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. 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. [provided by RefSeq, Aug 2017]. |
Disorder MIM: | |
Disorder Html: | Achondroplasia, 100800 (3); Hypochondroplasia, 146000 (3); Thanatophoric dysplasia, type I, 187600 (3); Crouzon syndrome with acanthosis nigricans, 612247 (3); Muenke syndrome, 602849 (3); Bladder cancer, somatic, 109800 (3); Colorectal cancer, somatic, 114500 (3); Cervical cancer, somatic, 603956 (3); LADD syndrome, 149730 (3); CATSHL syndrome, 610474 (3); Nevus, epidermal, somatic, 162900 (3); Thanatophoric dysplasia, type II, 187601 (3); Spermatocytic seminoma, somatic, 273300 (3); SADDAN, 616482 (3) |