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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.

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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2.

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

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3.

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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4.

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

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5.

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

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6.

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

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7.

None (2007) Familial hypercholesterolemia.

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8.

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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9.

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

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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.

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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12.

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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13.

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

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14.

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

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15.

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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16.

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

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17.

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

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18.

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

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19.

NCBI article

NCBI 4547 external link
20.

OMIM.ORG article

Omim 157147 external link
21.

Orphanet article

Orphanet ID 123576 external link
22.

Wikipedia article

Wikipedia EN (Microsomal_triglyceride_transfer_protein) external link
Update: Aug. 14, 2020
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