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Protein Page:
FGF8 (human)

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. Note: This description may include information from UniProtKB.
Protein type: Cytokine; Secreted, signal peptide; Secreted
Chromosomal Location of Human Ortholog: 10q24
Cellular Component: extracellular space; extracellular region; intracellular; external side of plasma membrane
Molecular Function: growth factor activity; type 2 fibroblast growth factor receptor binding; fibroblast growth factor receptor binding; type 1 fibroblast growth factor receptor binding; chemoattractant activity
Biological Process: nerve growth factor receptor signaling pathway; activation of MAPKK activity; adrenocorticotropin hormone secreting cell differentiation; motor axon guidance; gastrulation; Wnt receptor signaling pathway through beta-catenin; mesodermal cell migration; response to organic cyclic substance; BMP signaling pathway; positive chemotaxis; induction of an organ; small GTPase mediated signal transduction; male genitalia development; pallium development; mesonephros development; negative regulation of neuron apoptosis; regulation of odontogenesis of dentine-containing teeth; response to drug; anatomical structure morphogenesis; fibroblast growth factor receptor signaling pathway; positive regulation of mitosis; neural plate morphogenesis; subpallium development; forebrain morphogenesis; dorsal/ventral axon guidance; patterning of blood vessels; forebrain neuron development; midbrain-hindbrain boundary development; response to oxidative stress; metanephros development; axon guidance; gonad development; apoptosis; cell proliferation in forebrain; thyroid stimulating hormone secreting cell differentiation; forebrain dorsal/ventral pattern formation; embryonic hindlimb morphogenesis; odontogenesis; positive regulation of cell proliferation; thyroid gland development; heart looping; otic vesicle formation; epidermal growth factor receptor signaling pathway; negative regulation of cardiac muscle development; phosphoinositide-mediated signaling; pharyngeal system development; MAPKKK cascade; positive regulation of organ growth; ureteric bud branching; Ras protein signal transduction; insulin receptor signaling pathway; innate immune response; blood vessel remodeling; vascular endothelial growth factor receptor signaling pathway
Disease: Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Reference #:  P55075 (UniProtKB)
Alt. Names/Synonyms: AIGF; Androgen-induced growth factor; FGF-8; FGF8; Fibroblast growth factor 8; fibroblast growth factor 8 (androgen-induced); HBGF-8; Heparin-binding growth factor 8; KAL6; MGC149376
Gene Symbols: FGF8
Molecular weight: 26,525 Da
Basal Isoelectric point: 10.44  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  

Show Multiple Sequence Alignment


LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


HTP: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


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  FGF8 iso3  
  FGF8 iso4  

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