Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cholesterol 7-alpha-monooxygenase

The CYP7A1 gene encodes an enzyme of bile acid metabolism. An involvement in statine responsiveness and plasma lipid levels is assumed.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

References:

1.

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

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2.

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

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3.

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

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4.

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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5.

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

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6.

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

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7.

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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8.

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

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9.

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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10.

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

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11.

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

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12.

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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13.

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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14.

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

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15.

NCBI article

NCBI 1581 [^]
16.

OMIM.ORG article

Omim 118455 [^]
17.

Orphanet article

Orphanet ID 212882 [^]
18.

Wikipedia article

Wikipedia EN (Cholesterol_7_alpha-hydroxylase) [^]
Update: April 29, 2019