Cholesterol biosynthesis pathway

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Cholesterol biosynthesis pathway

Unless otherwise stated all data on this page refer to the human proteins. Gene information is provided for human (Hs), mouse (Mm) and rat (Rn).

Overview

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Cholesterol is an essential metabolite of animal cell membrane structure that is biosynthesized from lanosterol in all cells. The production of lanosterol is covered in depth in the Lanosterol biosynthesis pathway section. Cholesterol serves as a precursor for the biosynthesis of steroid hormones, bile acid and other bioactive oxysterols. This section covers enzymes that are active in cholesterol biosynthesis and which are not curated elsewhere in the Guide to PHARMACOLOGY.

Enzymes

sterol-C5-desaturase Show summary »« Hide summary

Target Id

3296

Nomenclature

sterol-C5-desaturase

Previous and unofficial names

delta(7)-sterol 5(6)-desaturase | lathosterol oxidase | SC5DL (previous symbol) | lathosterol 5-desaturase

Genes

SC5D (Hs), Sc5d (Mm), Sc5d (Rn)

Ensembl ID

ENSG00000109929 (Hs), ENSMUSG00000032018 (Mm), ENSRNOG00000008305 (Rn)

UniProtKB AC

O75845 (Hs), O88822 (Mm), Q9EQS5 (Rn)

EC number

1.14.19.20

Comment

Catalyzes the conversion of lathosterol into 7-dehydrocholesterol in the penultimate step of the cholesterol biosynthesis pathway. SC5D deficiency causes a rare autosomal recessive cholesterol biosynthesis disorder known as lathosterolosis.

NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL Show summary »« Hide summary

Target Id

3297

Nomenclature

NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL

Previous and unofficial names

NAD(P) dependent steroid dehydrogenase-like | short chain dehydrogenase/reductase family 31E, member 1 (SDR31E1)

Genes

NSDHL (Hs), Nsdhl (Mm), Nsdhl (Rn)

Ensembl ID

ENSG00000147383 (Hs), ENSMUSG00000031349 (Mm), ENSRNOG00000057814 (Rn)

UniProtKB AC

Q15738 (Hs), O55109 (Mm), NSDHL_RAT (Rn)

EC number

1.1.1.170

Inhibitors

compound 9 [PMID: 32140747] (Binding) pK_d 5.6 [1]

compound 9 [PMID: 32140747] pIC₅₀ 5.1 [1]

Comment

One component of a three enzyme network that removes methyl groups from the C-4 position of steroid molecules. Therapeutic potential for cholesterol-related diseases and carcinomas. Variants in NSDHL are associated with the lipid metabolism disorder CHILD syndrome.

References

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How to cite this family page

Database page citation:

Cholesterol biosynthesis pathway. Accessed on 25/04/2025. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/FamilyDisplayForward?familyId=1103.

Concise Guide to PHARMACOLOGY citation:

Alexander SPH, Fabbro D, Kelly E, Mathie AA, Peters JA, Veale EL, Armstrong JF, Faccenda E, Harding SD, Davies JA et al. (2023) The Concise Guide to PHARMACOLOGY 2023/24: Enzymes. Br J Pharmacol. 180 Suppl 2:S289-373.