Fibroblast Growth Factor-8 (FGF8) Human Active Protein

FGF8: Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Defects in FGF8 are the cause of Kallmann syndrome type 6 (KAL6). Kallmann syndrome is a disorder that associates hypogonadotropic hypogonadism and anosmia. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone- synthesizing neurons. In some patients other developmental anomalies can be present, which include renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis. In some cases anosmia may be absent or inconspicuous. Defects in FGF8 are a cause of idiopathic hypogonadotropic hypogonadism (IHH). IHH is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function. Belongs to the heparin-binding growth factors family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytokine; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 10q24

Cellular Component: extracellular region

Molecular Function: 1-phosphatidylinositol-3-kinase activity; phosphatidylinositol-4,5-bisphosphate 3-kinase activity; protein-tyrosine kinase activity; Ras guanyl-nucleotide exchange factor activity

Biological Process: fibroblast growth factor receptor signaling pathway; gonad development; MAPKKK cascade; mesonephros development; metanephros development; negative regulation of cardiac muscle development; odontogenesis; phosphoinositide-mediated signaling; positive regulation of cell differentiation; regulation of phosphoinositide 3-kinase cascade

Disease: Hypogonadotropic Hypogonadism 6 With Or Without Anosmia