Article
A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
The Journal of biological chemistry - 22 Nov 1996
Rehberg E F, Samson-Bouma M E, Kienzle B, Blinderman L, Jamil H, Wetterau J R, Aggerbeck L P, Gordon D A
Abstract excerpt
The microsomal triglyceride transfer protein (MTP) is a heterodimer composed of the ubiquitous multifunctional protein, protein disulfide isomerase, and a unique 97-kDa subunit. Mutations that lead to the absence of a functional 97-kDa subunit cause abetalipoproteinemia, an autosomal recessive disease characterized by a defect in the assembly and secretion of apolipoprotein B (apoB) containing lipoproteins....
Topics
- Apolipoproteins B
- Carrier Proteins
- Cholesterol Ester Transfer Proteins
- Cloning, Molecular
- DNA, Complementary
- Genotype
- Glycoproteins
- HeLa Cells
- Humans
- Intestinal Mucosa