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  • Title: The membrane defect in hereditary stomatocytosis.
    Author: Stewart GW.
    Journal: Baillieres Clin Haematol; 1993 Jun; 6(2):371-99. PubMed ID: 8043931.
    Abstract:
    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.
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