Human erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) ELISA Kit | EPB41 elisa kit
Human Protein 4.1, EPB41 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
EPB41: 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. Defects in EPB41 are the cause of elliptocytosis type 1 (EL1). EL1 is 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. Defects in EPB41 are a cause of hereditary pyropoikilocytosis (HPP). HPP is an autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. 7 isoforms of the human protein are produced by alternative splicing.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 1p33-p32
Cellular Component: cortical cytoskeleton; spectrin; Golgi apparatus; extrinsic to membrane; protein complex; intracellular membrane-bound organelle; plasma membrane; nucleus
Molecular Function: calmodulin binding; protein binding; spectrin binding; structural constituent of cytoskeleton; actin binding; phosphatidylinositol binding
Biological Process: positive regulation of protein binding; blood circulation; cortical actin cytoskeleton organization and biogenesis; actin cytoskeleton organization and biogenesis
Disease: Elliptocytosis 1; Pyropoikilocytosis, Hereditary
Research Articles on EPB41
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Product Notes
The Human EPB41 epb41 (Catalog #AAA9333358) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9333358 ELISA Kit recognizes Human EPB41. It is sometimes possible for the material contained within the vial of "erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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