FGFR1, also known as fibroblast growth factor receptor 1, is a receptor membrane tyrosine kinase belonging to the protein kinase superfamily, Tyr protein kinase family and fibroblast growth factor receptor subfamily with three Ig-like C2-type (immunoglobulin-like) domains and a protein kinase domain. This enzyme acts as a receptor for basic fibroblast growth factor while a shorter form of the receptor could be a receptor for FGF1 (aFGF). Binding of FGFR1 is reported to play a role in the modulation of bone elongation and also in bone development and maintenance. It also mediates two independent signaling pathways in retinal pigment epithelial cells and regulates proliferation, differentiation, and maintenance of normal myocardium. Defects in FGFR1 are responsible for several diseases which include Pfeiffer syndrome (PS), idiopathic hypogonadotropic hypogonadism (IHH), Kallmann syndrome type 2 (KAL2), osteoglophonic dysplasia (OGD), non-syndromic trigonocephaly and many more diseases.
Intended for research use only. Not for use in human, therapeutic, or diagnostic applications.