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epb42

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Official Full Name
erythrocyte membrane protein band 4.2
Background
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.
Synonyms
EPB42; erythrocyte membrane protein band 4.2; Erythrocyte surface protein band 4.2; MGC116735; MGC116737; PA; EPB42_HUMAN; Erythrocyte protein 4.2; P4.2; SPH5; OTTHUMP00000161294