EPB42

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]

erythrocyte membrane protein band 4.2

Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.

Cell morphogenesis Source: Ensembl
Erythrocyte maturation Source: UniProtKB-KW
Hemoglobin metabolic process Source: Ensembl
Iron ion homeostasis Source: Ensembl
Peptide cross-linking Source: GO_Central
Regulation of cell shape Source: UniProtKB-KW
Spleen development Source: Ensembl

Cytoskeleton; Cell membrane. Cytoplasmic surface of erythrocyte membranes.

Spherocytosis 5 (SPH5):
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.

Both cAMP-dependent kinase (CAPK) and another kinase present in the red-blood cells seem to be able to phosphorylate EPB42.