The molecular basis of abetalipoproteinemia.

Abstract:

:Abetalipoproteinemia is a recessive genetic disease in humans characterized by the virtual absence of apolipoprotein (apo)B and apoB-containing lipoproteins in plasma. Microsomal triglyceride transfer protein (MTP), a resident lipid transfer protein within the endoplasmic reticulum of hepatocytes and enterocytes, has been shown to be absent in enterocytes from subjects with this disease. MTP is a heterodimer of a unique large subunit and protein disulfide isomerase. It has been demonstrated that the absence of MTP in abetalipoproteinemia is secondary to mutations in the gene for the large subunit of MTP. Thus, mutations in the gene for the large subunit of MTP are a cause of abetalipoproteinemia, which indicates that the MTP is a necessary component for the assembly and secretion of apoB-containing lipoproteins from the liver and intestine.

journal_name

Curr Opin Lipidol

authors

Gregg RE,Wetterau JR

doi

10.1097/00041433-199404000-00003

subject

Has Abstract

pub_date

1994-04-01 00:00:00

pages

81-6

issue

2

eissn

0957-9672

issn

1473-6535

journal_volume

5

pub_type

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