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Reviewed September 2015
What is the official name of the ITGB3 gene?
The official name of this gene is “integrin beta 3.”
ITGB3 is the gene's official symbol. The ITGB3 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 ITGB3 gene?
The ITGB3 gene provides instructions for making the beta3 subunit of a receptor protein called integrin alphaIIb/beta3 (αIIbβ3), which is found on the surface of small cell fragments called platelets. Platelets circulate in blood and are an essential component of blood clots. The beta3 subunit attaches (binds) to the alphaIIb subunit, which is produced from the ITGA2B gene, to form integrin αIIbβ3. It is estimated that 80,000 to 100,000 copies of integrin αIIbβ3 are present on the surface of each platelet.
During clot formation, integrin αIIbβ3 binds to a protein called fibrinogen. Attachment of integrin αIIbβ3 from adjacent platelets to the same fibrinogen protein helps platelets cluster together (platelet cohesion) to form a blood clot. Blood clots protect the body after injury by sealing off damaged blood vessels and preventing further blood loss. Integrin αIIbβ3 can also bind other proteins on platelets and in the blood as well as proteins within the intricate lattice that forms in the space between cells (extracellular matrix) to ensure proper clot formation and promote wound healing.
Does the ITGB3 gene share characteristics with other genes?
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the ITGB3 gene related to health conditions?
Genetics Home Reference provides information about osteopetrosis, which is also associated with changes in the ITGB3 gene.
Where is the ITGB3 gene located?
Cytogenetic Location: 17q21.32
Molecular Location on chromosome 17: base pairs 47,253,842 to 47,312,711
The ITGB3 gene is located on the long (q) arm of chromosome 17 at position 21.32.
More precisely, the ITGB3 gene is located from base pair 47,253,842 to base pair 47,312,711 on chromosome 17.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ITGB3?
You and your healthcare professional may find the following resources about ITGB3 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 ITGB3 gene or gene products?
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.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ITGB3?
cell ; clotting ; cohesion ; deficiency ; extracellular ; extracellular matrix ; fibrinogen ; gene ; gums ; injury ; mutation ; petechiae ; platelets ; precursor ; protein ; receptor ; spontaneous ; subunit
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.