Regulatorisches sterolbindendes Protein 1
Das SREBF1-Gen kodiert ein Protein, welches über eine Sterolbindung in die Transkriptionsregulation eingreift. Epigenetische Modifikation in diesem Gen wurde im Zusammenhang mit Fettstoffwechselstörungen beobachtet.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Nagata R et al. (2004) Single nucleotide polymorphism (-468 Gly to A) at the promoter region of SREBP-1c associates with genetic defect of fructose-induced hepatic lipogenesis [corrected].
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2. |
Pfeiffer L et al. (2015) DNA methylation of lipid-related genes affects blood lipid levels.
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3. |
Braun KV et al. (2016) The role of DNA methylation in dyslipidaemia: A systematic review.
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4. |
None (2001) CREating a SCAP-less liver keeps SREBPs pinned in the ER membrane and prevents increased lipid synthesis in response to low cholesterol and high insulin.
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5. |
DeBose-Boyd RA et al. (1999) Transport-dependent proteolysis of SREBP: relocation of site-1 protease from Golgi to ER obviates the need for SREBP transport to Golgi.
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6. |
Shimano H et al. (1997) Elevated levels of SREBP-2 and cholesterol synthesis in livers of mice homozygous for a targeted disruption of the SREBP-1 gene.
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7. |
Shimomura I et al. (1997) Differential expression of exons 1a and 1c in mRNAs for sterol regulatory element binding protein-1 in human and mouse organs and cultured cells.
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8. |
Yokoyama C et al. (1993) SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene.
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9. |
Wang X et al. (1994) SREBP-1, a membrane-bound transcription factor released by sterol-regulated proteolysis.
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10. |
Hua X et al. (1995) Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13.
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11. |
Shimomura I et al. (1998) Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy.
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12. |
Tobe K et al. (2001) Increased expression of the sterol regulatory element-binding protein-1 gene in insulin receptor substrate-2(-/-) mouse liver.
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13. |
Shimomura I et al. (2000) Decreased IRS-2 and increased SREBP-1c lead to mixed insulin resistance and sensitivity in livers of lipodystrophic and ob/ob mice.
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14. |
Han J et al. (2015) The CREB coactivator CRTC2 controls hepatic lipid metabolism by regulating SREBP1.
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15. |
Cui G et al. (2011) Liver X receptor (LXR) mediates negative regulation of mouse and human Th17 differentiation.
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16. |
Najafi-Shoushtari SH et al. (2010) MicroRNA-33 and the SREBP host genes cooperate to control cholesterol homeostasis.
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17. |
Taghibiglou C et al. (2009) Role of NMDA receptor-dependent activation of SREBP1 in excitotoxic and ischemic neuronal injuries.
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18. |
Yang F et al. (2006) An ARC/Mediator subunit required for SREBP control of cholesterol and lipid homeostasis.
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19. |
Bengoechea-Alonso MT et al. (2005) Hyperphosphorylation regulates the activity of SREBP1 during mitosis.
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20. |
Lin J et al. (2005) Hyperlipidemic effects of dietary saturated fats mediated through PGC-1beta coactivation of SREBP.
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21. |
Lloyd DJ et al. (2002) A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.
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22. |
NCBI article
NCBI 6720
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23. |
OMIM.ORG article
Omim 184756
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Update: 14. August 2020