Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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

Verknüpfte Erkrankungen:

Epigenetische Dyslipidämie
ABCG1
CPT1A
MIR33B
SREBF1
TNIP1
TNNT1

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 external link
23.

OMIM.ORG article

Omim 184756 external link
Update: 14. August 2020
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