Aliases for EPB41 Gene
External Ids for EPB41 Gene
Previous HGNC Symbols for EPB41 Gene
Previous GeneCards Identifiers for EPB41 Gene
The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]
GeneCards Summary for EPB41 Gene
EPB41 (Erythrocyte Membrane Protein Band 4.1) is a Protein Coding gene. Diseases associated with EPB41 include Elliptocytosis 1 and Hereditary Elliptocytosis. Among its related pathways are Protein-protein interactions at synapses and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is EPB41L2.
UniProtKB/Swiss-Prot Summary for EPB41 Gene
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).