What is the official name of the ITGB3 gene?
The official name of this gene is “integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61).”
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?
- From NCBI Gene:
The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
- From UniProt:
Integrin alpha-V/beta-3 is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha-V/beta-3 recognize the sequence R-G-D in a wide array of ligands. Integrin alpha-IIb/beta-3 recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial surface. In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions.
How are changes in the ITGB3 gene related to health conditions?
- Genetics Home Reference provides information about osteopetrosis, which is associated with changes in the ITGB3 gene.
- UniProt provides the following information about the ITGB3 gene's known or predicted involvement in human disease.
Glanzmann thrombasthenia (GT): A common inherited disease of platelet aggregation. It is characterized by mucocutaneous bleeding of mild-to-moderate severity. GT has been classified clinically into types I and II. In type I, platelets show absence of the glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express the GPIIb-IIIa complex at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. The disease is caused by mutations affecting the gene represented in this entry.
Bleeding disorder, platelet-type 16 (BDPLT16): An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ITGB3 gene.
- Glanzmann's thrombasthenia
- Myocardial infarction 1
- Platelet-type bleeding disorder 16
- UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
Where is the ITGB3 gene located?
Cytogenetic Location: 17q21.32
Molecular Location on chromosome 17: base pairs 47,253,841 to 47,312,710
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 47,253,841 to base pair 47,312,710 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.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the ITGB3 gene or gene products?
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?
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
See How can I find a genetics professional in my area? in the Handbook.