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

Cholesterol 7-alpha-Monooxygenase

Das CYP7A1-Gen kodiert ein Enzym des Gallenstoffwechsels. Eine Bedeutung für die Wirkung der Statine und den Serumlipidspiegel wird vermutet.

Gentests:

Forschung 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:

Referenzen:

1.

Angelin B et al. (1978) Bile acid kinetics in relation to endogenous tryglyceride metabolism in various types of hyperlipoproteinemia.

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2.

Agellon LB et al. (2002) Dietary cholesterol fails to stimulate the human cholesterol 7alpha-hydroxylase gene (CYP7A1) in transgenic mice.

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3.

Drover VA et al. (2002) A distinct thyroid hormone response element mediates repression of the human cholesterol 7alpha-hydroxylase (CYP7A1) gene promoter.

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4.

Goodwin B et al. (2000) A regulatory cascade of the nuclear receptors FXR, SHP-1, and LRH-1 represses bile acid biosynthesis.

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5.

Lu TT et al. (2000) Molecular basis for feedback regulation of bile acid synthesis by nuclear receptors.

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6.

Repa JJ et al. (2000) Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers.

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7.

Nitta M et al. (1999) CPF: an orphan nuclear receptor that regulates liver-specific expression of the human cholesterol 7alpha-hydroxylase gene.

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8.

Wang J et al. (1998) Linkage between cholesterol 7alpha-hydroxylase and high plasma low-density lipoprotein cholesterol concentrations.

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9.

Angelin B et al. (1987) Bile acid metabolism in hereditary forms of hypertriglyceridemia: evidence for an increased synthesis rate in monogenic familial hypertriglyceridemia.

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10.

Noshiro M et al. (1990) Molecular cloning and sequence analysis of cDNA encoding human cholesterol 7 alpha-hydroxylase.

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11.

Paumgartner G et al. (1991) Gallstones: pathogenesis.

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12.

Cohen JC et al. (1992) Cloning of the human cholesterol 7 alpha-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12.

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13.

Molowa DT et al. (1992) Transcriptional regulation of the human cholesterol 7 alpha-hydroxylase gene.

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14.

Teslovich TM et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids.

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15.

NCBI article

NCBI 1581 external link
16.

OMIM.ORG article

Omim 118455 external link
17.

Orphanet article

Orphanet ID 212882 external link
Update: 14. August 2020
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