Aliases for EPB41 Gene
External Ids for EPB41 Gene
Previous Symbols 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 PAK Pathway and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include actin binding and structural constituent of cytoskeleton. An important paralog of this gene is FRMD3.
UniProtKB/Swiss-Prot 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