Structural highlights
Disease
EPB41_HUMAN Hereditary elliptocytosis. The disease is caused by variants affecting the gene represented in this entry.
Function
EPB41_HUMAN 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. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127).[1]
References
- ↑ Kiyomitsu T, Cheeseman IM. Cortical dynein and asymmetric membrane elongation coordinately position the spindle in anaphase. Cell. 2013 Jul 18;154(2):391-402. PMID:23870127 doi:10.1016/j.cell.2013.06.010