Insulin-Like Growth Factor-Binding Protein 7

Alternative Names

  • IGFBP7
  • IGF-Binding Protein-Related Protein 1
  • IGFBPRP1
  • MAC25
  • Prostacyclin-Stimulating Factor
  • PSF
  • Angiomodulin
  • AGM
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OMIM Number

602867

NCBI Gene ID

3490

Uniprot ID

Q16270

Length

79,613 bases

No. of Exons

5

No. of isoforms

2

Protein Name

Insulin-like growth factor-binding protein 7

Molecular Mass

29130 Da

Amino Acid Count

282

Genomic Location

chr4:57,030,773-57,110,385

Gene Map Locus
4q12

Description

The IGFBP7 gene encodes a protein called insulin-like growth factor-binding protein 7 (IGFBP7).  Insulin-like growth factor (IGF)-binding proteins (IGFBPs) are involved in promoting cell growth and division and preventing cells from undergoing apoptosis prematurely.   They bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors.  The IGFBP7 protein binds IGF-I and IGF-II with a relatively low affinity.  It also stimulates prostacyclin (PGI2) production and cell adhesion.  

Defects in this protein have been associated with retinal arterial macroaneurysm, a disorder that affects blood vessels in the eyes and heart.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001553.3:c.830-1G>ASaudi Arabia; United A...NC_000004.12:g.57031337C>TPathogenicLikely Pathogenic, PathogenicRetinal Arterial Macroaneurysm with Supravalvular Pulmonic StenosisNG_031877.1:g.84049G>A; NM_001553.3:c.830-1G>A; NP_001544.1:p.?86699486330280
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