Hereditary spherocytosis associated with a variant of band 3 protein in the erythrocyte membrane.
A 17-year-old woman with hereditary spherocytosis was found to be heterozygous for an unusual variant of the band 3 protein in erythrocyte membranes. The variant had a molecular weight of 95,000 daltons which was larger by about 3,000 daltons than the 92,000 m.w. normal band 3, and was phosphorylated less efficiently when intact cells were incubated with 32P-inorganic phosphate. It is discussed that this variant may affect the integrity of the membrane skeletons.
D000293:Adolescent; D001457:Anion Exchange Protein 1, Erythrocyte / Q000097:blood*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D010766:Phosphorylation; D011494:Protein Kinases / Q000378:metabolism; D013103:Spherocytosis, Hereditary / Q000235:genetics*
D001457:Anion Exchange Protein 1, Erythrocyte; D011494:Protein Kinases