Fibroblast Growth Factor-9 (FGF 9) Human Active Protein

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members 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 was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008]

FGF9: Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors. Defects in FGF9 are the cause of multiple synostoses syndrome type 3 (SYNS3). Multiple synostoses syndrome is an autosomal dominant condition characterized by progressive joint fusions of the fingers, wrists, ankles and cervical spine, characteristic facies and progressive conductive deafness. Belongs to the heparin-binding growth factors family.

Protein type: Cytokine

Chromosomal Location of Human Ortholog: 13q11-q12

Cellular Component: extracellular space; cytoplasm; extracellular region; basement membrane

Molecular Function: heparin binding; growth factor activity; fibroblast growth factor receptor binding

Biological Process: negative regulation of Wnt receptor signaling pathway; nerve growth factor receptor signaling pathway; embryonic skeletal development; negative regulation of transcription from RNA polymerase II promoter; signal transduction; positive regulation of vascular endothelial growth factor receptor signaling pathway; positive regulation of activin receptor signaling pathway; substantia nigra development; cell-cell signaling; positive regulation of MAPKKK cascade; protein import into nucleus; male sex determination; positive regulation of cell proliferation; positive regulation of mesenchymal cell proliferation; chondrocyte differentiation; positive regulation of smoothened signaling pathway; angiogenesis; regulation of timing of cell differentiation; embryonic gut development; positive regulation of cardiac muscle cell proliferation; embryonic limb morphogenesis; epidermal growth factor receptor signaling pathway; inner ear morphogenesis; fibroblast growth factor receptor signaling pathway; phosphoinositide-mediated signaling; male gonad development; osteoblast differentiation; positive regulation of cell division; insulin receptor signaling pathway; innate immune response; positive regulation of epithelial cell proliferation

Disease: Multiple Synostoses Syndrome 3