Recombinant Human EPB41 cell lysate

• Cat.No.: EPB41-560HCL

Specification

• Species: Human
• Tag: Non
• Description: Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Inherited as an autosomal dominant, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton. The form discussed here is the one found in the 1950s to be linked to Rh blood group and more recently shown to be caused by a defect in protein 4.1. Rh-unlinked forms of elliptocytosis are caused by mutation in the alpha-spectrin gene (MIM 182860), the beta-spectrin gene (MIM 182870), or the band 3 gene (MIM 109270).
• Size: 100 ul
• Storage Buffer: 1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
• Applications: Western Blot

Gene Information

• Gene Name: EPB41 erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) [ Homo sapiens ]
• Official Symbol: EPB41
• Synonyms: EPB41; erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked); EL1; protein 4.1; 4.1R; P4.1; EPB4.1; band 4.1; erythrocyte surface protein band 4.1; HE
• Gene ID: 2035
• mRNA Refseq: NM_001166005
• Protein Refseq: NP_001159477
• MIM: 130500
• UniProt ID: P11171
• Chromosome Location: 1p33-p32
• Pathway: Syndecan-2-mediated signaling events, organism-specific biosystem; Tight junction, organism-specific biosystem; Tight junction, conserved biosystem
• Function: 1-phosphatidylinositol binding; actin binding; calmodulin binding; protein binding; spectrin binding; structural constituent of cytoskeleton