IGFBP-7 HUMAN Recombinant Protein

This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]

IGFBP7: Binds IGF-I and IGF-II with a relatively low affinity. Stimulates prostacyclin (PGI2) production. Stimulates cell adhesion. Defects in IGFBP7 are the cause of retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS). RAMSVPS is an autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction.

Protein type: Cell adhesion; Cell cycle regulation; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 4q12

Cellular Component: extracellular matrix; extracellular space; extracellular region

Molecular Function: insulin-like growth factor binding; protein binding

Biological Process: negative regulation of cell proliferation; response to cortisol stimulus; response to retinoic acid; response to heat; regulation of steroid biosynthetic process; regulation of cell growth; cell adhesion; inner ear development; embryo implantation; cellular response to hormone stimulus

Disease: Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis