Literature summary for 1.14.14.23 extracted from

De Castro-Oros, I.; Pampin, S.; Cofan, M.; Mozas, P.; Pinto, X.; Salas-Salvado, J.; Rodriguez-Rey, J.C.; Ros, E.; Civeira, F.; Pocovi, M.
Promoter variant -204A>C of the cholesterol 7alpha-hydroxylase gene: Association with response to plant sterols in humans and increased transcriptional activity in transfected HepG2 cells (2010), Clin. Nutr., 30, 239-246.

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Cloned(Commentary)

Cloned (Comment)	Organism
gene CYP7A1, genotyping, overview. Expression of promoter constructs in HepG2 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	naturally occuring promoter variant -204A > C (rs3808607) of the CYP7A1 gene, genotyping, functionality of the -204A > C variant, electrophoretic mobility gel shift assays, overview. The C-construct causes a 78% promoter activity increase and gel-shift assays howed lower affinity for nuclear transcription factors, while in silico experiments predict a binding site for inhibitory nuclear factors RXR-CAR	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	gene CYP7A1	-

Synonyms

Synonyms	Comment	Organism
cholesterol 7alpha-hydroxylase	-	Homo sapiens
CYP7A1	-	Homo sapiens

General Information

General Information	Comment	Organism
metabolism	CYP7A1 is an enzyme involved in bile acid synthesis	Homo sapiens
additional information	lipid responses of 67 subjects of different promoter variants -204A > C, 31 AA and 36 AC+ CC, to plant sterols, overview. Compared to AA-subjects, C-carriers show significantly higher adjusted mean reductions in total cholesterol and increases in lathosterol-to-cholesterol ratios	Homo sapiens

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Release 2023.1 (January 2023)