Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Microsomal triglyceride transfer protein

The MTTP gene encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein which is involved in lipid metabolism. Mutation cause autosomal recessive abetalipoproteinemia.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Abetalipoproteinemia
MTTP

References:

1.

Wetterau JR et al. (1992) Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.

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2.

Benayoun L et al. (2007) Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.

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3.

Talmud PJ et al. (1988) Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.

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4.

Partin JS et al. (1974) Liver ultrastructure in abetalipoproteinemia: Evolution of micronodular cirrhosis.

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5.

Shoulders CC et al. (1993) Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.

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6.

Sharp D et al. (1993) Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.

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7.

Cuchel M et al. (2007) Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia.

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8.

Raabe M et al. (1999) Analysis of the role of microsomal triglyceride transfer protein in the liver of tissue-specific knockout mice.

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9.

Yang XP et al. (1999) Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene.

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10.

Ohashi K et al. (2000) Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.

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11.

Al-Shali K et al. (2003) Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.

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12.

Rubin D et al. (2006) A common functional exon polymorphism in the microsomal triglyceride transfer protein gene is associated with type 2 diabetes, impaired glucose metabolism and insulin levels.

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13.

None (2007) Familial hypercholesterolemia.

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14.

Wetterau JR et al. (1990) Protein disulfide isomerase is a component of the microsomal triglyceride transfer protein complex.

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15.

Narcisi TM et al. (1995) Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.

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16.

Nakamuta M et al. (1996) Mouse microsomal triglyceride transfer protein large subunit: cDNA cloning, tissue-specific expression and chromosomal localization.

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17.

Rehberg EF et al. (1996) 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.

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18.

Heath KE et al. (1997) The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22-24).

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19.

NCBI article

NCBI 4547 [^]
20.

OMIM.ORG article

Omim 157147 [^]
21.

Orphanet article

Orphanet ID 123576 [^]
22.

Wikipedia article

Wikipedia EN (Microsomal_triglyceride_transfer_protein) [^]
Update: April 29, 2019