Biology:7-Dehydrocholesterol reductase

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Short description: Mammalian protein found in Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example


7-Dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.[1][2][3]

Function

7-dehydrocholesterol reductase
Identifiers
EC number1.3.1.21
CAS number9080-21-1
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO

The protein encoded by this gene is an enzyme catalyzing the production of cholesterol from 7-Dehydrocholesterol using NADPH.

The DHCR7 gene encodes delta-7-sterol reductase (EC 1.3.1.21), the ultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development.[1]

Pathology

A deficiency is associated with Smith–Lemli–Opitz syndrome.[4]

All house cats and dogs have higher-than-usual activity of this enzyme, causing an inability to synthesize vitamin D due to the lack of 7-dehydrocholesterol.[5]

Interactive pathway map

See also

References

  1. 1.0 1.1 "Entrez Gene: DHCR7 7-dehydrocholesterol reductase". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1717. 
  2. "Molecular cloning and expression of the human delta7-sterol reductase". Proceedings of the National Academy of Sciences of the United States of America 95 (4): 1899–902. Feb 1998. doi:10.1073/pnas.95.4.1899. PMID 9465114. Bibcode1998PNAS...95.1899M. 
  3. "Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome". American Journal of Human Genetics 63 (1): 55–62. Jul 1998. doi:10.1086/301936. PMID 9634533. 
  4. "Recent insights into the Smith-Lemli-Opitz syndrome". Clinical Genetics 68 (5): 383–91. Nov 2005. doi:10.1111/j.1399-0004.2005.00515.x. PMID 16207203. 
  5. Zafalon, Rafael V. A.; Risolia, Larissa W.; Pedrinelli, Vivian; Vendramini, Thiago H. A.; Rodrigues, Roberta B. A.; Amaral, Andressa R.; Kogika, Marcia M.; Brunetto, Marcio A. (January 2020). "Vitamin D metabolism in dogs and cats and its relation to diseases not associated with bone metabolism". Journal of Animal Physiology and Animal Nutrition 104 (1): 322–342. doi:10.1111/jpn.13259. PMID 31803981. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.