EPB41 ist ein Gen, das durch das Symbol EPB41 kodiert wird. Andere Namen sind: Protein 4.1; P4.1; 4.1R; Band 4.1; EPB4.1; E41P. EPB41 hat eine Masse von 97.02kDa, eine Aminosäurelänge von 864, und ist an Elliptocytosis 1 beteiligt.
Wir bieten 8 antikörper gegen EPB41, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Elliptocytosis 1: 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.
Posttranslationale Modifikation
Phosphorylated at multiple sites by different protein kinases and each phosphorylation event selectively modulates the protein's functions.
Zellort
Cytoplasm > Cytoskeleton. Cytoplasm > Cell cortex. Nucleus.
