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24-Dehydrocholesterol reductase

Mammalian protein found in Homo sapiens

24-Dehydrocholesterol reductase is a protein that in humans is encoded by the DHCR24 gene.

This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase, which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells.

References

(Sep 2001). "Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.". Am J Hum Genet.
"Entrez Gene: DHCR24 24-dehydrocholesterol reductase".

Info: Wikipedia Source

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