Lathosterol oxidase is a
Δ7-sterol 5(6)-desaturase enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products ...
that in humans is encoded by the ''SC5D''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
This gene encodes an enzyme of
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 structural component of animal cell mem ...
biosynthesis. The encoded protein catalyzes the conversion of
lathosterol into
7-dehydrocholesterol. Mutations in this gene have been associated with
lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described.
References
Further reading
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