Fibroblast Growth Factor 8 (FGF8) ELISA Kit for Human

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 is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]

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: Secreted, signal peptide; Secreted; Cytokine

Chromosomal Location of Human Ortholog: 10q24

Cellular Component: external side of plasma membrane; extracellular region; extracellular space; intracellular

Molecular Function: chemoattractant activity; fibroblast growth factor receptor binding; growth factor activity; type 1 fibroblast growth factor receptor binding; type 2 fibroblast growth factor receptor binding

Biological Process: activation of MAPKK activity; adrenocorticotropin hormone secreting cell differentiation; anatomical structure morphogenesis; apoptosis; axon guidance; blood vessel remodeling; BMP signaling pathway; cell fate commitment; cell proliferation in forebrain; dorsal/ventral axon guidance; embryonic hindlimb morphogenesis; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; forebrain dorsal/ventral pattern formation; forebrain morphogenesis; forebrain neuron development; gastrulation; gonad development; heart looping; induction of an organ; innate immune response; insulin receptor signaling pathway; male genitalia development; MAPKKK cascade; mesodermal cell migration; mesonephros development; metanephros development; midbrain-hindbrain boundary development; motor axon guidance; negative regulation of cardiac muscle development; negative regulation of neuron apoptosis; nerve growth factor receptor signaling pathway; neural plate morphogenesis; odontogenesis; otic vesicle formation; pallium development; patterning of blood vessels; pharyngeal system development; phosphoinositide-mediated signaling; positive chemotaxis; positive regulation of cell proliferation; positive regulation of mitosis; positive regulation of organ growth; Ras protein signal transduction; regulation of odontogenesis of dentine-containing teeth; response to drug; response to organic cyclic substance; response to oxidative stress; small GTPase mediated signal transduction; subpallium development; thyroid gland development; thyroid stimulating hormone secreting cell differentiation; ureteric bud branching; vascular endothelial growth factor receptor signaling pathway; Wnt receptor signaling pathway through beta-catenin

Disease: Hypogonadotropic Hypogonadism 6 With Or Without Anosmia