Lathosterol oxidase is a
Δ7-sterol 5(6)-desaturase
In enzymology, a Δ7-sterol 5(6)-desaturase () is an enzyme that catalyzes the chemical reaction
Δ7-sterol + 2 ferrocytochrome b5 + + 2 H+ = Δ5,7-sterol + 2 ferricytochrome b5 + 2
The four substrates of this enzyme are Δ7-sterol, fer ...
enzyme that in humans is encoded by the ''SC5D''
gene.
This gene encodes an enzyme of
cholesterol biosynthesis. The encoded protein catalyzes the conversion of
lathosterol
Lathosterol is a cholesterol
Cholesterol is any of a class of certain organic molecules called lipids. It is a sterol (or modified steroid), a type of lipid. Cholesterol is biosynthesized by all animal cells and is an essential structur ...
into
7-dehydrocholesterol. Mutations in this gene have been associated with
lathosterolosis
Lathosterolosis is an inborn error of cholesterol biosynthesis caused by a deficiency of the enzyme 3-beta-hydroxysteroid-delta-5-desaturase. This leads to a flaw in the conversion of lathosterol to 7-dehydrocholesterol. Characteristics include ...
. Alternatively spliced transcript variants encoding the same protein have been described.
References
Further reading
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