Protein 4.1 (EPB41) ELISA Kit for Mouse

EPB41: Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Defects in EPB41 are the cause of elliptocytosis type 1 (EL1). EL1 is a Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant, hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. Defects in EPB41 are a cause of hereditary pyropoikilocytosis (HPP). HPP is an autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. 7 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 4 D2.3|4 64.54 cM

Cellular Component: actin cytoskeleton; cell junction; cortical cytoskeleton; cytoplasm; cytoplasmic side of plasma membrane; cytoskeleton; cytosol; membrane; nucleus; plasma membrane; postsynaptic density; protein complex

Molecular Function: actin binding; calmodulin binding; cytoskeletal protein binding; phosphatidylinositol binding; phosphoprotein binding; protein C-terminus binding; protein N-terminus binding; spectrin binding; structural constituent of cytoskeleton; structural molecule activity

Biological Process: actin cytoskeleton organization; actomyosin structure organization; cell cycle; cell division; cortical actin cytoskeleton organization and biogenesis; positive regulation of protein binding; positive regulation of protein localization to cell cortex; protein complex assembly; regulation of cell shape; transport