The gene FGFR1 (FLT2,FLG) at 8p11.23-p11.22 codes for a 822 amino-acid peptide which is processed to fibroblast growth factor receptor 1 a tyosine kinase receptor protein with multiple isoforms. It has a fair importance as defects are associated with:
- Idiopathic hypogonadotropic hypogonadism
- Jackson-Weiss syndrome
- Kallmann syndrome type 2
- Osteoglophonic dysplasia
- Pfeiffer syndrome
- Myeloproliferative disorders
It is receptor for fibroblast growth factors FGF1, FGF2 and FGF23. As such it is important in tumour cell growth, survival, migration and angiogenesis. Small molecule FGFR inhibitors are in clinical development.