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FGF3 Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development. Defects in FGF3 are a cause of deafness with labyrinthine aplasia, microtia and microdontia (LAMM); also known as congenital deafness with inner ear agenesis, microtia and microdontia. LAMM consists of a unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia). Belongs to the heparin-binding growth factors family. Note: This description may include information from UniProtKB.
Protein type: Oncoprotein; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 11q13.3
Cellular Component: extracellular region; intracellular
Molecular Function: 1-phosphatidylinositol-3-kinase activity; fibroblast growth factor receptor binding; growth factor activity; phosphatidylinositol-4,5-bisphosphate 3-kinase activity; protein binding; protein tyrosine kinase activity; Ras guanyl-nucleotide exchange factor activity
Biological Process: anatomical structure morphogenesis; cell differentiation; cell-cell signaling; fibroblast growth factor receptor signaling pathway; MAPK cascade; multicellular organism development; negative regulation of cardiac muscle tissue development; peptidyl-tyrosine phosphorylation; phosphatidylinositol phosphorylation; phosphoinositide-mediated signaling; positive regulation of cell division; positive regulation of cell proliferation; positive regulation of GTPase activity; regulation of phosphatidylinositol 3-kinase signaling; signal transduction
Disease: Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Reference #:  P11487 (UniProtKB)
Alt. Names/Synonyms: FGF-3; FGF3; Fibroblast growth factor 3; fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog); HBGF-3; Heparin-binding growth factor 3; INT-2 proto-oncogene protein; INT2; murine mammary tumor virus integration site 2, mouse; oncogene INT2; Proto-oncogene Int-2; V-INT2 murine mammary tumor virus integration site oncogene homolog
Gene Symbols: FGF3
Molecular weight: 26,887 Da
Basal Isoelectric point: 10.88  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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