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Structure of the gene encoding human liver cholesterol 7 alpha-hydroxylase.
Department of Biochemistry, Hiroshima University School of Dentistry, Japan.
A human cholesterol 7 alpha-hydroxylase gene spanning 17 kb in length which includes the sequence 5' flanking region (6. kb) and that of the entire transcriptional region (10.5 kb) was obtained from two partially overlapping clones (i.e., HG 18 and HG 17) of a human genomic library. The exon-intron boundaries are completely identical with that of rat gene. Several transcriptional factor recognition sequences were observed in the 5' flanking region.
PMID: 8439551 [PubMed - indexed for MEDLINE]
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Cited by 2 PubMed Central articles
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Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype.
Pullinger CR, Eng C, Salen G, Shefer S, Batta AK, Erickson SK, Verhagen A, Rivera CR, Mulvihill SJ, Malloy MJ, et al.
J Clin Invest. 2002 Jul; 110(1):109-17.
[J Clin Invest. 2002]
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The 3'-untranslated region of the mouse cholesterol 7alpha-hydroxylase mRNA contains elements responsive to post-transcriptional regulation by bile acids.
Agellon LB, Cheema SK.
Biochem J. 1997 Dec 1; 328 ( Pt 2):393-9.
[Biochem J. 1997]