ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion.
Biochem Soc Trans
; 47(5): 1259-1268, 2019 10 31.
Article
em En
| MEDLINE
| ID: mdl-31654053
ABSTRACT
The ABCG5/G8 heterodimer is the primary neutral sterol transporter in hepatobiliary and transintestinal cholesterol excretion. Inactivating mutations on either the ABCG5 or ABCG8 subunit cause Sitosterolemia, a rare genetic disorder. In 2016, a crystal structure of human ABCG5/G8 in an apo state showed the first structural information on ATP-binding cassette (ABC) sterol transporters and revealed several structural features that were observed for the first time. Over the past decade, several missense variants of ABCG5/G8 have been associated with non-Sitosterolemia lipid phenotypes. In this review, we summarize recent pathophysiological and structural findings of ABCG5/G8, interpret the structure-function relationship in disease-causing variants and describe the available evidence that allows us to build a mechanistic view of ABCG5/G8-mediated sterol transport.
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Base de dados:
MEDLINE
Assunto principal:
Sistema Biliar
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Colesterol
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Membro 5 da Subfamília G de Transportadores de Cassetes de Ligação de ATP
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Membro 8 da Subfamília G de Transportadores de Cassetes de Ligação de ATP
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Lipoproteínas
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Fígado
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article