Glycophorin C
Glycophorin C (also known as GPC) is a protein that in humans is encoded by the GYPC gene. It is a member of the glycophorin family, which are integral membrane proteins that carry sugar chains and are found on the surface of red blood cells.
Function[edit | edit source]
Glycophorin C plays a crucial role in maintaining the structural integrity of the red blood cell membrane. It is a high-affinity receptor for the Plasmodium falciparum parasite, which causes the most severe form of malaria. The protein also serves as the attachment site for ankyrin, a protein that connects the membrane skeleton to the lipid bilayer.
Structure[edit | edit source]
The GYPC gene is located on the long arm of chromosome 2 (2q14.3). It spans about 6.5 kilobases and consists of 7 exons. The encoded protein is a type I transmembrane protein with a single transmembrane domain, a large extracellular domain, and a short cytoplasmic tail.
Clinical significance[edit | edit source]
Mutations in the GYPC gene can lead to the hereditary elliptocytosis condition, a genetic disorder characterized by abnormally shaped red blood cells. In addition, the absence of Glycophorin C can result in the rare blood group known as Leach Phenotype.
See also[edit | edit source]
References[edit | edit source]
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