Role of the cholesterol 7α-hydroxylase and CYP7A1 gene in human physiology and pathology
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Zakład Biochemii i Genetyki Medycznej Śląski Uniwersytet Medyczny
Tomasz Iwanicki   

Zakład Biochemii i Genetyki Medycznej Śląskiego Uniwersytetu Medycznego, ul. Medyków 18, Katowice, tel. +48 32 252 84 32
Ann. Acad. Med. Siles. 2010;64:48–57
Cholesterol 7α- hydroxylase (CYP7A1) belongs to the big family of cytochrome p450. Biological signifi cance of cholesterol 7α- hydroxylase is associated with beginning of cholesterol transformation to the bile acids. CYP7A1 affi nity to the cholesterol is determined by its unique protein structure, diff erent from the other proteins of cytochrome p450 family. CYP7A1 enzyme is enoded by CYP7A1 gene localized in short arm of chromosome 8. Expression of CYP7A1 gene could be regulated by farnesoid X receptor (FXR) or by kinases, which modulate nuclear receptor`s binding abilities to the gene promoter. Polymorphic variants and mutations present in the promoter region impact on the quality properties of the enzyme. CYP7A1 gene, encoding key enzyme of the cholesterol catabolic pathway is a main candidate to the research of its association with changes of serum lipids levels. Presence of genetic variants can be associated with changed levels of total cholesterol, triglycerides and Low- density lipoproteins (LDL). Promoter polymorphism of CYP7A1 is also main candidate for the research of association with such disease entities as gallbladder stone formation, colon cancer, gallbladder cancer or atherogenic- based diseases.
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