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Zentrum für Nephrologie und Stoffwechsel
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Microsomales Triglycerid-Transferprotein

Das MTTP-Gen kodiert die große Untereinheit des heterodimeren microsomalen Triglycerid-Transferproteins. Mutationen sind für die autosomal rezessive Form der Abetalipoproteinämie verantwortlich.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Abetalipoproteinämie
MTTP

Referenzen:

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 Artikel

Wikipedia DE (Mikrosomales_Triglycerid-Transferprotein) external link
Update: 14. August 2020
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