What is the official name of the IGFBP7 gene?
The official name of this gene is “insulin-like growth factor binding protein 7.”
IGFBP7 is the gene's official symbol. The IGFBP7 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the IGFBP7 gene?
The IGFBP7 gene provides instructions for making a protein called insulin-like growth factor-binding protein 7 (IGFBP7). Insulin-like growth factors (IGFs) are molecules that are involved in promoting cell growth and division and preventing cells from self-destructing (undergoing apoptosis) prematurely. The IGFBP7 protein is one of a group of proteins that help control the availability of IGFs in body fluids and tissues and increase or decrease the attachment (binding) of IGFs to other molecules called receptors. The binding of IGFs and their receptors activates the cell signaling processes in which they are involved.
The IGFBP7 protein is active in the lining of blood vessels (the vascular endothelium). Its interactions with IGFs and their receptors are thought to help stop a pathway called BRAF signaling, which is involved in directing cell growth.
How are changes in the IGFBP7 gene related to health conditions?
- retinal arterial macroaneurysm with supravalvular pulmonic stenosis - caused by mutations in theIGFBP7 gene
- A single IGFBP7 gene mutation has been identified in people with retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS), a disorder that affects blood vessels in the eyes and heart. In affected individuals, the mutation occurs in both copies of the gene in each cell. The mutation, written as 830-1G>A, is called a splice-site mutation, which means that it affects the way the protein is pieced together. The protein produced from the mutated IGFBP7 gene is abnormally short and does not function properly.Without normally functioning IGFBP7 protein to control BRAF signaling, this signaling is increased. It is unknown how this increase is related to the specific blood vessel abnormalities that occur in RAMSVPS, or why these abnormalities are confined to the eyes and the pulmonary artery. Researchers suggest that differences in normal levels of IGFBP7 protein in various parts of the body or the presence of other proteins with a similar function in different tissues may account for the specific signs and symptoms of this disorder.
Where is the IGFBP7 gene located?
Cytogenetic Location: 4q12
Molecular Location on chromosome 4: base pairs 57,031,070 to 57,110,384
The IGFBP7 gene is located on the long (q) arm of chromosome 4 at position 12.
More precisely, the IGFBP7 gene is located from base pair 57,031,070 to base pair 57,110,384 on chromosome 4.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about IGFBP7?
You and your healthcare professional may find the following resources about IGFBP7 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the IGFBP7 gene or gene products?
- IGF-binding protein 7
- PGI2-stimulating factor
- prostacyclin-stimulating factor
- tumor-derived adhesion factor
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
- What is DNA?
- What is a gene?
- How do genes direct the production of proteins?
- How can gene mutations affect health and development?
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding IGFBP7?
apoptosis ; artery ; cell ; gene ; growth factor ; insulin ; mutation ; protein ; pulmonary ;pulmonary artery ; pulmonic stenosis ; splice-site mutation ; stenosis ; tumor ; vascular
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (5 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook