EPB41 è un gene codificato dal simbolo EPB41. Altri nomi includono: Protein 4.1; P4.1; 4.1R; Band 4.1; EPB4.1; E41P. EPB41 ha una massa di 97.02kDa, una lunghezza di amminoacidi di 864, ed è implicato in Elliptocytosis 1.
Offriamo 8 anticorpi contro EPB41, allevati nel Coniglio, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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).
Sommario di Entrez
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.
Coinvolgimento nella malattia
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.
Modifica post-translazionale
Phosphorylated at multiple sites by different protein kinases and each phosphorylation event selectively modulates the protein's functions.
Posizione cellulare
Cytoplasm > Cytoskeleton. Cytoplasm > Cell cortex. Nucleus.
