Abstract
Studies of Niemann-Pick C (NPC) and Tangier diseases have led to the identification of the causative genes, NPC1 and ABCA1, respectively. Characterization of their protein products shows that NPC1 and ABCA1 are permeases that belong to two different superfamilies of efflux pumps, which might be important in subcellular lipid and cholesterol transport.
MeSH terms
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ATP-Binding Cassette Transporters / metabolism
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ATP-Binding Cassette Transporters / pharmacology
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ATP-Binding Cassette Transporters / physiology
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Biological Transport
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Cholesterol / metabolism*
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Humans
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Lipid Metabolism, Inborn Errors / etiology
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Membrane Transport Proteins / metabolism
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Membrane Transport Proteins / pharmacology*
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Membrane Transport Proteins / physiology
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Niemann-Pick Diseases / etiology
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Subcellular Fractions / chemistry*
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Tangier Disease / etiology
Substances
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ATP-Binding Cassette Transporters
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Membrane Transport Proteins
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Cholesterol