Sterol-C5-desaturase-like
Sterol-C5-desaturase-like is an enzyme that is encoded by the SC5DL gene in humans. This enzyme is involved in the biosynthesis of sterols, which are essential components of cell membranes and precursors of other biologically important molecules.
Function[edit | edit source]
Sterol-C5-desaturase-like is a member of the cytochrome P450 family of enzymes. These enzymes are involved in the synthesis of cholesterol, steroids and other lipids. Specifically, Sterol-C5-desaturase-like catalyzes the removal of two hydrogen atoms from the C5 position of sterols, a critical step in the biosynthesis of cholesterol.
Clinical significance[edit | edit source]
Mutations in the SC5DL gene have been associated with lathosterolosis, a rare autosomal recessive disorder characterized by multiple congenital anomalies and mental retardation. Patients with lathosterolosis have elevated levels of lathosterol in their blood and tissues, indicating a defect in the conversion of lathosterol to 7-dehydrocholesterol, a step catalyzed by Sterol-C5-desaturase-like.
See also[edit | edit source]
References[edit | edit source]
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