Human erythrocyte membrane protein band 4.2 ELISA Kit | EPB42 elisa kit
Human Erythrocyte membrane protein band 4.2, EPB42 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Uniprot Description
Epb4.2: Probably plays an important role in the regulation of erythrocyte shape and mechanical properties. Defects in EPB42 are the cause of spherocytosis type 5 (SPH5); also known as hereditary spherocytosis type 5 (HS5). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported. Belongs to the transglutaminase superfamily. Transglutaminase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 15q15-q21
Cellular Component: cortical cytoskeleton; cytoskeleton; plasma membrane
Molecular Function: protein binding; protein-glutamine gamma-glutamyltransferase activity; structural constituent of cytoskeleton; ATP binding
Biological Process: spleen development; regulation of cell shape; iron ion homeostasis; erythrocyte maturation; hemoglobin metabolic process; cell morphogenesis; peptide cross-linking
Disease: Spherocytosis, Type 5
Research Articles on EPB42
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Product Notes
The Human EPB42 epb42 (Catalog #AAA9318913) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9318913 ELISA Kit recognizes Human EPB42. It is sometimes possible for the material contained within the vial of "erythrocyte membrane protein band 4.2, 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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