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

Cholesterinester-Transferprotein

Das CETP-Gen kodiert das Cholesterinester-Transferprotein, ein Enzym welches für den Austausch von Cholesterinestern unter den Lipoproteinen verantwortlich ist. Dominante und rezessive Mutationen führen zur Hyperalphalipoproteinämie Typ 1, einem Zustand der durch eine besonders geringe Anfälligkeit gegenüber arteriosklerotischen Erkrankungen gekennzeichnet ist und ein besonders hohes Lebensalter der Betroffenen zur Folge hat.

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:

Hyperalphalipoproteinämie 1
CETP
Kombinierte familiäre Hyperlipämie mit gestörtem VLDL-Metabolismus
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1

Referenzen:

1.

Spirin V et al. (2007) Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol.

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2.

Oliveira HC et al. (1996) Human cholesteryl ester transfer protein gene proximal promoter contains dietary cholesterol positive responsive elements and mediates expression in small intestine and periphery while predominant liver and spleen expression is controlled by 5'-distal sequences. Cis-acting sequences mapped in transgenic mice.

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3.

Takahashi K et al. (1993) A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins.

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4.

Day JR et al. (1994) Complete cDNA encoding human phospholipid transfer protein from human endothelial cells.

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5.

Akita H et al. (1994) Cholesteryl ester transfer protein gene: two common mutations and their effect on plasma high-density lipoprotein cholesterol content.

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6.

Inazu A et al. (1994) Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol.

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7.

Sakai N et al. (1995) Frequency of exon 15 missense mutation (442D:G) in cholesteryl ester transfer protein gene in hyperalphalipoproteinemic Japanese subjects.

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8.

Drayna D et al. () Cloning and sequencing of human cholesteryl ester transfer protein cDNA.

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9.

Lusis AJ et al. (1987) Assignment of the human gene for cholesteryl ester transfer protein to chromosome 16q12-16q21.

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10.

Drayna D et al. (1987) Multiple RFLPs at the human cholesteryl ester transfer protein (CETP) locus.

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11.

Brown ML et al. (1989) Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins.

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12.

Yamashita S et al. (1990) Total deficiency of plasma cholesteryl ester transfer protein in subjects homozygous and heterozygous for the intron 14 splicing defect.

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13.

Sanders AE et al. (2010) Association of a functional polymorphism in the cholesteryl ester transfer protein (CETP) gene with memory decline and incidence of dementia.

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14.

Barzilai N et al. (2006) A genotype of exceptional longevity is associated with preservation of cognitive function.

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15.

Barzilai N et al. (2003) Unique lipoprotein phenotype and genotype associated with exceptional longevity.

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16.

Okamoto H et al. (2000) A cholesteryl ester transfer protein inhibitor attenuates atherosclerosis in rabbits.

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17.

Herrera VL et al. (1999) Spontaneous combined hyperlipidemia, coronary heart disease and decreased survival in Dahl salt-sensitive hypertensive rats transgenic for human cholesteryl ester transfer protein.

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18.

Kuivenhoven JA et al. (1998) The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. The Regression Growth Evaluation Statin Study Group.

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19.

None (1984) A pedigree of homozygous familial hyperalphalipoproteinemia.

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20.

Inazu A et al. (1990) Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation.

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21.

Gautier T et al. (2002) Apolipoprotein CI deficiency markedly augments plasma lipoprotein changes mediated by human cholesteryl ester transfer protein (CETP) in CETP transgenic/ApoCI-knocked out mice.

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22.

NCBI article

NCBI 1071 external link
23.

OMIM.ORG article

Omim 118470 external link
24.

Orphanet article

Orphanet ID 119357 external link
25.

Wikipedia Artikel

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