GYPB
GYPB is a gene that provides instructions for making a protein called glycophorin B. This protein is found in red blood cells, where it plays a crucial role in maintaining the cell's shape and flexibility. The GYPB gene is part of a family of genes known as the glycophorin family.
Structure
The GYPB gene is located on the short (p) arm of chromosome 4 at position 31.2. More precisely, the GYPB gene is located from base pair 144,713,214 to base pair 144,716,758 on chromosome 4.
Function
The glycophorin B protein produced by the GYPB gene is a sialoglycoprotein, which means it is a type of protein attached to glycans (complex sugars). This protein is found in the membrane of red blood cells, where it contributes to the cell's structure and flexibility. The glycophorin B protein also plays a role in the cell's ability to change shape without breaking when it moves through tiny blood vessels.
Clinical significance
Mutations in the GYPB gene can cause a condition known as S-s-U- blood group. This condition is characterized by a lack of certain blood group antigens on red blood cells. People with this condition may have an increased risk of hemolytic transfusion reaction if they receive blood that contains the missing antigens.
See also
References
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