7-Dehydrocholesterol reductase

Mammalian protein found in humans From Wikipedia, the free encyclopedia

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

Quick facts DHCR7, Identifiers ...
DHCR7
Identifiers
AliasesDHCR7, SLOS, 7-dehydrocholesterol reductase
External IDsOMIM: 602858; MGI: 1298378; HomoloGene: 1042; GeneCards: DHCR7; OMA:DHCR7 - orthologs
EC number1.3.1.21
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001163817
NM_001360

RefSeq (protein)

NP_001157289
NP_001351

Location (UCSC)Chr 11: 71.43 – 71.45 MbChr 7: 143.38 – 143.4 Mb
PubMed search[3][4]
Wikidata
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Function

The protein encoded by this gene is an enzyme catalyzing the reversible production of cholesterol from 7-dehydrocholesterol using nicotinamide adenine dinucleotide phosphate (NADPH) as its cofactor.[8]

 
 
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Reversible left-right reaction arrow with minor forward substrate(s) from top left and minor reverse product(s) to bottom left
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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]

It displays a modest level of enzyme promiscuity, being able to catalyze analogous reactions with (substrate in forward direction) brassicasterol,[9] 20S(OH)7DHC, 27(OH)DHC and 7-dehydrodesmosterol.[10]

Pathology

A deficiency is associated with Smith–Lemli–Opitz syndrome.[11]

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.[12]

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
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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
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Vitamin D Synthesis Pathway (view / edit)
  1. The interactive pathway map can be edited at WikiPathways: "VitaminDSynthesis_WP1531".

See also

References

Further reading

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