Sitosterolemia: a new mutation in a Mediterranean patient.

Abstract excerpt

Sitosterolemia is a rare autosomal recessive disorder characterised by a high plasma level of sterols. A homozygous mutation or the compound heterozygous mutation in the ABCG5 gene or the ABCG8 gene leads to a complete loss of function of the ATP-binding cassette (ABC) heterodimer transporter G5-G8, which is localised to the apical membrane of enterocytes and hepatocytes. In enterocytes, this complex rejects...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to ATP Binding Cassette Transporter, Subfamily G, Member 5
• Share to Azetidines