Instability of red cell shape associated with the absence of membrane glycophorin C.
Erythrocytes from 3 Gerbich-negative siblings readily converted to echinocytes when subjected to changing concentrations of sodium or lithium chloride. When erythrocyte membrane proteins were assayed by immunoblotting with human anti-Ge 1,2, normal membranes were found to contain a reactive component of an approximate molecular weight of 33,000 daltons which was absent from the Gerbich-negative individuals. PAS staining and mobility on SDS gels identified this component as glycophorin C. These observations indicate that glycophorin C (beta-sialoglycoprotein) is a component of the Gerbich antigen and is involved in normal cell shape maintenance.
D000328:Adult; D001789:Blood Group Antigens / Q000235:genetics; D004910:Erythrocyte Membrane / Q000378:metabolism* / Q000648:ultrastructure; D005260:Female; D006021:Glycophorins / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D006801:Humans; D008855:Microscopy, Electron, Scanning; D010375:Pedigree; D011247:Pregnancy; D012795:Sialoglycoproteins / Q000172:deficiency*
D001789:Blood Group Antigens; D006021:Glycophorins; D012795:Sialoglycoproteins