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 |
Verknüpfte Erkrankungen:
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
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20. |
OMIM.ORG article
Omim 157147
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21. |
Orphanet article
Orphanet ID 123576
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22. |
Wikipedia Artikel
Wikipedia DE (Mikrosomales_Triglycerid-Transferprotein)
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Update: 14. August 2020