NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: 10q24.32
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
Research Articles on FGF8a / FGF-8a
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Product Notes
The FGF8a / FGF-8a fgf8 (Catalog #AAA2545192) is a Recombinant Protein produced from E Coli and is intended for research purposes only. The product is available for immediate purchase. The recombinant human FGF8a consists 183 amino acids and predicts a molecular mass of 21.3 kDa. Researchers should empirically determine the suitability of the FGF8a / FGF-8a fgf8 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "FGF8a / FGF-8a, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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