EPB41 est un gène codé par le symbole EPB41. D'autres noms incluent: Protein 4.1; P4.1; 4.1R; Band 4.1; EPB4.1; E41P. EPB41 a une masse de 97.02kDa, une longueur d'acide aminé de 864, et est impliqué dans Elliptocytosis 1.
Nous proposons 8 des anticorps contre EPB41, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé 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).
Résumé 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.
Implication dans la maladie
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.
Modification post-traductionnelle
Phosphorylated at multiple sites by different protein kinases and each phosphorylation event selectively modulates the protein's functions.
Localisation cellulaire
Cytoplasm > Cytoskeleton. Cytoplasm > Cell cortex. Nucleus.
