FGFR3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human FGFR3 wild-type allele is located in the vicinity of 4p16.3 and is approximately 15 kb in length. This allele, which encodes fibroblast growth factor receptor 3 protein, is involved in mitogenesis, differentiation, and bone development and maintenance. Alterations in the gene resulting in defects cause, achondroplasia, crouzon syndrome, thanatophoric dysplasia, coronal synostosis, hypochondroplasia, bladder and cervix cancers.

**Synonyms:** - ACH - Achondroplasia, Thanatophoric Dwarfism Gene - CD333 - CEK2 - FGFR3 - Fibroblast Growth Factor Receptor 3 (Achondroplasia, Thanatophoric Dwarfism) Gene - Fibroblast Growth Factor Receptor 3 wt Allele - HSFGFR3EX - JTK4