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IGFBP7 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

IGFBP7 gene

The IGFBP7 gene produces a protein that regulates cell growth and division by controlling the availability of insulin-like growth factors.

Normal Function

The IGFBP7 gene provides instructions for making the insulin-like growth factor-binding protein 7 (IGFBP7). This protein helps control the availability of insulin-like growth factors (IGFs), which promote cell growth and division and prevent premature cell death (apoptosis).

The IGFBP7 protein is active in the lining of blood vessels (the vascular endothelium). By interacting with IGFs and their receptors, it is thought to help stop a pathway called BRAF signaling, which directs cell growth.

Health Conditions Related to Genetic Changes

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

A single IGFBP7 gene mutation, specifically a splice-site mutation (830-1G>A), has been identified in individuals with retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS). This disorder affects blood vessels in the eyes and heart.

  • The mutation results in an abnormally short, non-functional protein.
  • Without functional IGFBP7 to control BRAF signaling, this signaling pathway becomes overactive.
  • Increased BRAF signaling is linked to the blood vessel abnormalities seen in this condition, though the exact mechanism remains under study.

Other Names for This Gene

  • AGM
  • angiomodulin
  • FSTL2
  • IBP-7
  • IGF-binding protein 7
  • IGFBP-7
  • IGFBP-7v
  • IGFBP-rP1
  • IGFBPRP1
  • insulin-like growth factor binding protein 7
  • MAC25
  • PGI2-stimulating factor
  • prostacyclin-stimulating factor
  • PSF
  • RAMSVPS
  • TAF
  • tumor-derived adhesion factor

Frequently Asked Questions

Preclinical studies suggest that BRAF inhibitors (e.g., vemurafenib) can reduce abnormal vascular signaling in cell models lacking IGFBP7. However, no clinical trials have yet evaluated these agents for RAMSVPS. Participation in research registries or trials, when available, is the only way to access such targeted therapy, and treatment decisions should be made in consultation with a multidisciplinary team.
Testing is performed on peripheral blood DNA using targeted next‑generation sequencing (NGS) panels that include IGFBP7, followed by Sanger confirmation of the splice‑site variant. In some labs, RNA analysis from blood leukocytes may be added to demonstrate abnormal splicing and loss of functional protein.
For the retina, regular ophthalmologic exams with fundus photography and optical coherence tomography every 6‑12 months are advised; laser photocoagulation or intravitreal anti‑VEGF can be used for active macroaneurysms or hemorrhage. Cardiac surveillance includes baseline echocardiography, repeat imaging every 1‑2 years, and referral to a pediatric cardiologist for possible balloon angioplasty or surgical repair of supravalvular pulmonic stenosis if gradients become hemodynamically significant. Blood pressure control and avoidance of smoking are also recommended.
Key clues include recurrent retinal arterial macroaneurysms or hemorrhages in young adults, often with visual disturbances, combined with a heart murmur or echocardiographic evidence of supravalvular pulmonic stenosis. Systemic hypertension, peripheral vascular anomalies, or a family history of similar eye‑cardiac findings raise suspicion. Genetic testing for IGFBP7 splice‑site mutations (e.g., c.830‑1G>A) confirms the diagnosis.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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