EPB42
Description
The EPB42 gene encodes for protein 4.2, an integral component of the red blood cell membrane skeleton. This protein plays a crucial role in maintaining the structural integrity and deformability of red blood cells, allowing them to navigate through narrow capillaries and deliver oxygen throughout the body. Mutations in the EPB42 gene can lead to various hematological disorders, primarily affecting red blood cell morphology and function.
Associated Diseases
Did you know?
Mutations in the EPB42 gene are responsible for a rare form of hereditary spherocytosis characterized by the absence of protein 4.2, resulting in severe hemolytic anemia.
