EPB41

Protein 4.1, also known as Beatty's Protein, is a is_associated_with::protein associated with the is_associated_with::cytoskeleton that in humans is encoded by the EPB41 is_associated_with::gene. Protein 4.1 is a major structural element of the is_associated_with::erythrocyte is_associated_with::membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing is_associated_with::spectrin-is_associated_with::actin interaction. Protein 4.1 (80 kD) interacts with spectrin and short is_associated_with::actin filaments to form the erythrocyte membrane skeleton. Mutations of spectrin and protein 4.1 are associated with is_associated_with::elliptocytosis or is_associated_with::spherocytosis and is_associated_with::anemia of varying severity.

Clinical significance


Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Inherited as an autosomal dominant, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton. The form discussed here is the one found in the 1950s to be linked to Rh blood group and more recently shown to be caused by a defect in protein 4.1. 'Rh-unlinked' forms of elliptocytosis are caused by mutation in the alpha-is_associated_with::spectrin gene (MIM 182860), the beta-is_associated_with::spectrin gene (MIM 182870), or the is_associated_with::band 3 gene (MIM 109270).[supplied by OMIM]

Interactions
Band 4.1 has been shown to interact with:
 * is_associated_with::CENPJ,
 * is_associated_with::EIF3G
 * NUMA1, and
 * TJP2.