EPB41 (Ab-660/418), Antibody

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 1; NC_000001.10 (29213603..29446558). Location: 1p33-p32

Rabbit

Phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol

1 mg/ml (lot specific)

Small volumes of anti-EPB41 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

ELISA (EIA), Western Blot (WB)

97,017 Da

erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)

protein 4.1; P4.1; EPB4.1; band 4.1; erythrocyte surface protein band 4.1

Protein 4.1

E41P; P4.1  [Similar Products]

41_HUMAN

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]

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: spectrin; cortical cytoskeleton; 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

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