EPB41
Description
The EPB41 (erythrocyte membrane protein band 4.1) is a protein-coding gene located on chromosome 1.
EPB41 (Erythrocyte membrane protein band 4.1) encodes Protein 4.1, a key component of the erythrocyte membrane skeleton. This protein plays a crucial role in maintaining the mechanical integrity and flexibility of the red blood cell membrane by stabilizing the interaction between spectrin and actin. Mutations in EPB41 can lead to elliptocytosis, a hematologic disorder characterized by elliptically shaped red blood cells and varying degrees of anemia. The disorder is inherited in an autosomal dominant manner. Protein 4.1 interacts with a number of other proteins, including CENPJ, EIF3G, NUMA1, and TJP2.
EPB41 is a key component of the erythrocyte membrane skeleton, contributing to its mechanical stability and deformability by stabilizing the interaction between spectrin and actin. It also plays a role in recruiting DLG1 to membranes and is essential for the recruitment of the dynein-dynactin complex and NUMA1 to the mitotic cell cortex during anaphase.
EPB41 is also known as 4.1R, EL1, HE.
