The membrane defect in hereditary stomatocytosis.
Hereditary stomatocytosis and allied conditions represent a series of diseases in which abnormal movements of univalent cations across the plasma membrane play an important part in cellular disease. The primary problem lies not in the active transporters but in the basal permeability of the membrane, which is always increased, and the extent of the increase correlates with the cellular dysfunction. A number of structural abnormalities have been described in these membranes, but the most consistent and convincing is the deficiency of a hitherto uncharacterized integral membrane protein of molecular weight 31 kDa in the severe, 'overhydrated' form of the disease. The true function of this protein remains enigmatic, but its deficiency in this condition indicates that it may have a role in the regulation of cation transport.
Stewart
G W
GW
Department of Medicine, University College and Middlesex School of Medicine, Rayne Institute, London, UK.
D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000097:blood* / Q000235:genetics / Q000473:pathology / Q000662:veterinary; D000818:Animals; D001692:Biological Transport; D001798:Blood Proteins / Q000737:chemistry / Q000172:deficiency* / Q000378:metabolism / Q000502:physiology; D002352:Carrier Proteins / Q000097:blood*; D002414:Cations, Monovalent / Q000097:blood*; D002463:Cell Membrane Permeability; D002648:Child; D004283:Dog Diseases / Q000097:blood / Q000235:genetics; D004285:Dogs; D004910:Erythrocyte Membrane / Q000378:metabolism / Q000648:ultrastructure*; D004913:Erythrocytes, Abnormal / Q000648:ultrastructure*; D005260:Female; D015511:Goat Diseases / Q000097:blood / Q000235:genetics; D006041:Goats; D006801:Humans; D008565:Membrane Proteins; D011188:Potassium / Q000097:blood; D012756:Sheep; D012757:Sheep Diseases / Q000097:blood / Q000235:genetics; D012964:Sodium / Q000097:blood
D001798:Blood Proteins; D002352:Carrier Proteins; D002414:Cations, Monovalent; D008565:Membrane Proteins; C036860:STOM protein, human; D012964:Sodium; D011188:Potassium