|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41).”
ITGA2B is the gene's official symbol. The ITGA2B gene is also known by other names, listed below.
ITGA2B encodes integrin alpha chain 2b. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 2b undergoes post-translational cleavage to yield disulfide-linked light and heavy chains that join with beta 3 to form a fibronectin receptor expressed in platelets that plays a crucial role in coagulation. Mutations that interfere with this role result in thrombasthenia. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It 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 cell surface.
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.
|273800 (http://omim.org/entry/273800)||GLANZMANN THROMBASTHENIA|
|187800 (http://omim.org/entry/187800)||BLEEDING DISORDER, PLATELET-TYPE, 16|
|607759 (http://omim.org/entry/607759)||INTEGRIN, ALPHA-2B|
Cytogenetic Location: 17q21.32
Molecular Location on chromosome 17: base pairs 44,372,181 to 44,389,504
The ITGA2B gene is located on the long (q) arm of chromosome 17 at position 21.32.
More precisely, the ITGA2B gene is located from base pair 44,372,181 to base pair 44,389,504 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ITGA2B helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
autosomal ; autosomal dominant ; cell ; coagulation ; congenital ; expressed ; fibrinogen ; gene ; inherited ; integrins ; in vitro ; mucocutaneous ; platelets ; receptor ; soluble
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.