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Article

Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.

Human molecular genetics - 1 Dec 1993

Shoulders C C, Brett D J, Bayliss J D, Narcisi T M, Jarmuz A, Grantham T T, Leoni P R, Bhattacharya S, Pease R J, Cullen P M

Abstract excerpt

Abetalipoproteinemia is an inherited disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, very low density lipoprotein, low density lipoprotein and lipoprotein (a)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration. Biochemical and genetic studies show that...

Topics

Abetalipoproteinemia
Amino Acid Sequence
Animals
Apolipoproteins B
Base Sequence
Carrier Proteins
Cattle
Cholesterol Ester Transfer Proteins
Crystallography, X-Ray
Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Gene Expression

Genotype

Glycoproteins

Humans

Kidney

Macromolecular Substances

Male

Source

Identifiers

PMID: 8111381
DOI: 10.1093/hmg/2.12.2109

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8111381-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.PMID 8111381Read ↗

The molecular basis of abetalipoproteinemia.Semantic proximity Read ↗

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A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia.Semantic proximity Read ↗

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Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia.Semantic proximity Read ↗

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.Semantic proximity Read ↗

A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption.Semantic proximity Read ↗

Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.Semantic proximity Read ↗

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.Semantic proximity Read ↗

A novel mutation, Ile344Asn, in microsomal triglyceride transfer protein abolishes binding to protein disulfide isomerase.Semantic proximity Read ↗

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