The GP1BB gene provides instructions for making a protein called glycoprotein 1b-beta (GPIbβ). This protein is one piece (subunit) of a protein complex called GPIb-IX-V, which plays a role in blood clotting. GPIb-IX-V is found on the surface of small cells called platelets, which circulate in blood and are an essential component of blood clots. The complex can attach (bind) to a protein called von Willebrand factor, fitting together like a lock and its key. Von Willebrand factor is found on the inside surface of blood vessels, particularly when there is an injury. Binding of the GPIb-IX-V complex to von Willebrand factor allows platelets to stick to the blood vessel wall at the site of the injury. These platelets form clots, plugging holes in the blood vessels to help stop bleeding.
To form the GPIb-IX-V complex, GPIbβ interacts with other protein subunits called GPIb-alpha, GPIX, and GPV, each of which is produced from a different gene. GPIbβ is essential for assembly of the complex at the platelet surface and helps stabilize the complex once it is formed.
Other Names
antigen CD42b-beta; BDPLT1; BS; CD42C; glycoprotein Ib (platelet), beta polypeptide; glycoprotein Ib platelet beta subunit; GP-Ib beta; GPIBB; GPIbbeta; nuclear localization signal deleted in velocardiofacial syndrome; platelet glycoprotein Ib beta chain precursor; platelet membrane glycoprotein Ib beta; truncated platelet membrane glycoprotein Ib beta
Related Genetics Topics
Identifiers
- NCBI Gene: 2812
- OMIM: 138720
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
