A SHORTENED VARIANT OF RED-CELL MEMBRANE PROTEIN-4.1

  • 1 January 1982
    • journal article
    • research article
    • Vol. 60  (1) , 265-267
Abstract
In a healthy 32 yr old woman with normal red cell morphology, a shortened variant of cytoskeletal membrane protein 4.1 is described at the heterozygous state. One haploid set of protein 4.1 migrated below protein 4.2 and displayed a reduction in mass of .apprx. 8500 with regard to the normal haploid set. The shortening corresponds to a deletion of .apprx. 75 amino acids and concerns both subcomponents a and b of protein 4.1. It seems to involve some phosphorylation site(s). It was transmitted to the proposita''s son (who inherited elliptocytosis with band 4.1 deficiency from his father). The present abnormality is the 1st unequivocal variant of erythrocyte membrane protein 4.1 recognized up to now.