Английская Википедия:Cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase

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In enzymology, a cholest-5-ene-3β,7α-diol 3β-dehydrogenase (Шаблон:EC number) is an enzyme that catalyzes the chemical reaction[1]

cholest-5-ene-3β,7α-diol + NAD+ <math>\rightleftharpoons</math> 7α-hydroxycholest-4-en-3-one + NADH + H+

Thus, the two substrates of this enzyme are cholest-5-ene-3β,7α-diol and NAD+, whereas its 3 products are 7α-hydroxycholest-4-en-3-one, NADH, and H+.

The systematic name of this enzyme class is cholest-5-ene-3β,7α-diol:NAD+ 3-oxidoreductase. This enzyme is also called 3β-hydroxy-Δ5-C27-steroid oxidoreductase. The human version of this enzyme is known as hydroxy-Δ-5-steroid dehydrogenase, 3 β- and steroid delta-isomerase 7 or HSD3B7 which is encoded by the HSD3B7 gene.[2][3]

Function

This enzyme belongs to the family of oxidoreductases, specifically those acting on the CH-OH group of donor with NAD+ or NADP+ as acceptor. This enzyme is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. This enzyme is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates.[4]

Clinical significance

Mutations in the HSD3B7 gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease.[4]

See also

References

Шаблон:Reflist

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