Human pathology

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cholesterol biosynthesis

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The LDL receptor pathway and regulation of cholesterol metabolism.

Pathology (Anomalies of cholesterol biosynthesis)

- deficiency of 3beta-hydroxysteroid-delta5-desaturase (lathosterolosis) by mutations in the 3beta-hydroxysteroid-Delta(5)-desaturase (SC5D) (12189593)

References

- Herman GE. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum Mol Genet. 2003 Apr 2;12(Suppl 1):R75-88. PMID: 12668600

- Farese RV Jr, Herz J. Cholesterol metabolism and embryogenesis. Trends Genet. 1998 Mar;14(3):115-20. PMID: 9540409

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