FGFR3 Gene - GeneCards | FGFR3 Protein | FGFR3 Antibody
Highlights The first cases of cervical carcinoma harboring an FGFR3–TACC3 fusion One of patients whose tumor contained the FGFR3–TACC3 fusion received an.
Clinical Synopsis : TEXT: A number sign is used with this entry because achondroplasia ACH is caused by heterozygous mutation in the fibroblast growth.
Hum Mol Genet. 2013 Feb 15;22(4):795-803. doi: 10.1093/hmg/dds486. Epub 2012 Nov 21. Oncogenic FGFR3 gene fusions in bladder cancer. Williams SV1, Hurst CD, Knowles MA. Abstract FGF receptor 3 (FGFR3) is activated by mutation or over-expression in many bladder cancers. Here, we identify an additional mechanism of activation via chromosomal re-arrangement to generate constitutively activated fusion genes.
- Complete information for FGFR3 gene Protein Coding, Fibroblast Growth Factor Receptor 3, including: function, proteins, disorders, pathways, orthologs, and expression.
- 1. Hum Mol Genet. 2013 Feb 15;22 4 :795-803. Doi: 10.1093/hmg/dds486. Epub 2012 Nov 21. Oncogenic FGFR3 gene fusions in bladder cancer. Williams SV 1, Hurst CD.
- Gain-of-function mutations in the fibroblast growth factor receptor 3 gene FGFR3 result in skeletal dysplasias, such as thanatophoric dysplasia and achondroplasia.
- 1 Department of Pathology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA. 2 The University of Texas Graduate School of Biomedical Sciences.
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.
162900 - nevus, epidermal - nevus, keratinocytic, nonepidermolytic - nevus sebaceous, included;; nevus, woolly hair.