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].
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Hammill, Risinger, Joiner, Keddache, Kalfa: "Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient." dans: British journal of haematology, Vol. 152, Issue 6, pp. 780-3, (2011) (PubMed).
Synonymes et noms alternatifs relatifs à EPB42
erythrocyte membrane protein band 4.2 (EPB42), erythrocyte membrane protein band 4.2 (Epb42), Epb4.2, Epb42, PA, SPH5