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.


Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.