7-Dehydrocholesterol Reductase
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7-Dehydrocholesterol Reductase
DHCR7
Identifiers
AliasesDHCR7, SLOS, 7-dehydrocholesterol reductase
External IDsOMIM: 602858 MGI: 1298378 HomoloGene: 1042 GeneCards: DHCR7
EC number1.3.1.21
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for DHCR7
Genomic location for DHCR7
Band11q13.4Start71,428,193 bp[1]
End71,452,868 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 11: 71.43 - 71.45 MbChr 7: 143.82 - 143.85 Mb
PubMed search[3][4]
Wikidata

7-Dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.[5][6][7]

Function

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.[5]

Pathology

A deficiency is associated with Smith-Lemli-Opitz syndrome.[8]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles. [§ 1]

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VitaminDSynthesis_WP1531Go to articleGo to articleGo to articleGo to articlego to articleGo to articleGo to articleGo to articlego to articlego to articlego to articlego to articleGo to articleGo to articlego to articleGo to articlego to articlego to articlego to articleGo to articlego to article
|{{{bSize}}}px|alt=Vitamin D Synthesis Pathway (view / )]]
Vitamin D Synthesis Pathway (view / )
  1. ^ The interactive pathway map can be edited at WikiPathways: "VitaminDSynthesis_WP1531".

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000172893 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058454 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: DHCR7 7-dehydrocholesterol reductase".
  6. ^ Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H (Feb 1998). "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. doi:10.1073/pnas.95.4.1899. PMC 19210. PMID 9465114.
  7. ^ Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD (Jul 1998). "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. doi:10.1086/301936. PMC 1377256. PMID 9634533.
  8. ^ Yu H, Patel SB (Nov 2005). "Recent insights into the Smith-Lemli-Opitz syndrome". Clinical Genetics. 68 (5): 383-91. doi:10.1111/j.1399-0004.2005.00515.x. PMC 1350989. PMID 16207203.

Further reading

External links

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


  This article uses material from the Wikipedia page available here. It is released under the Creative Commons Attribution-Share-Alike License 3.0.

7-Dehydrocholesterol_reductase
 



 



 
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