The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

IGF1: The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. May be a physiological regulator of [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblasts. Stimulates glucose transport in rat bone-derived osteoblastic (PyMS) cells and is effective at much lower concentrations than insulin, not only regarding glycogen and DNA synthesis but also with regard to enhancing glucose uptake. Defects in IGF1 are the cause of insulin-like growth factor I deficiency (IGF1 deficiency). IGF1 deficiency is an autosomal recessive disorder characterized by growth retardation, sensorineural deafness and mental retardation. Belongs to the insulin family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted, signal peptide; Secreted; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 12q23.2

Cellular Component: insulin-like growth factor binding protein complex; extracellular space; extracellular region; plasma membrane

Molecular Function: integrin binding; insulin-like growth factor receptor binding; protein binding; growth factor activity; hormone activity; insulin receptor binding

Biological Process: muscle development; positive regulation of transcription, DNA-dependent; chondroitin sulfate proteoglycan biosynthetic process; glycolate metabolic process; exocrine pancreas development; water homeostasis; positive regulation of glucose import; positive regulation of fibroblast proliferation; proteoglycan biosynthetic process; inner ear development; positive regulation of DNA binding; muscle hypertrophy; platelet activation; positive regulation of protein import into nucleus, translocation; positive regulation of mitosis; regulation of establishment and/or maintenance of cell polarity; positive regulation of phosphoinositide 3-kinase cascade; cell activation; positive regulation of peptidyl-tyrosine phosphorylation; insulin-like growth factor receptor signaling pathway; branching morphogenesis of a tube; regulation of gene expression; response to heat; positive regulation of transcription from RNA polymerase II promoter; alveolus development; positive regulation of epithelial cell proliferation; negative regulation of apoptosis; positive regulation of insulin-like growth factor receptor signaling pathway; myoblast proliferation; positive regulation of smooth muscle cell proliferation; positive regulation of glycogen biosynthetic process; signal transduction; positive regulation of smooth muscle cell migration; positive regulation of activated T cell proliferation; negative regulation of cell proliferation; glial cell differentiation; platelet degranulation; mammary gland development; positive regulation of MAPKKK cascade; positive regulation of cell proliferation; DNA replication; skeletal development; positive regulation of granule cell precursor proliferation; phosphoinositide-mediated signaling; multicellular organism growth; regulation of multicellular organism growth; myotube cell development; satellite cell compartment self-renewal involved in skeletal muscle regeneration; myoblast differentiation; positive regulation of osteoblast differentiation; positive regulation of protein kinase B signaling cascade; cell proliferation; cellular protein metabolic process; positive regulation of tyrosine phosphorylation of Stat5 protein; Ras protein signal transduction; positive regulation of glycolysis; blood vessel remodeling; positive regulation of Ras protein signal transduction; blood coagulation; cell motility; positive regulation of DNA replication

Disease: Insulin-like Growth Factor I Deficiency