Fibroblast Growth Factor 17 Protein (FGF17) Human Active Protein

This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is expressed during embryogenesis and in the adult cerebellum and cortex and may be essential for vascular growth and normal brain development. Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

FGF17: Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development. Belongs to the heparin-binding growth factors family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytokine; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 8p21.3

Cellular Component: extracellular region; extracellular space

Molecular Function: 1-phosphatidylinositol-3-kinase activity; phosphatidylinositol-4,5-bisphosphate 3-kinase activity; protein-tyrosine kinase activity; Ras guanyl-nucleotide exchange factor activity; type 1 fibroblast growth factor receptor binding; type 2 fibroblast growth factor receptor binding

Biological Process: cell-cell signaling; fibroblast growth factor receptor signaling pathway; MAPKKK cascade; nervous system development; phosphoinositide-mediated signaling; regulation of phosphoinositide 3-kinase cascade; signal transduction

Disease: Hypogonadotropic Hypogonadism 20 With Or Without Anosmia; Hypogonadotropic Hypogonadism 7 With Or Without Anosmia