7-Dehydrocholesterol Reductase

Alternative Names

  • DHCR7
  • Sterol Delta-7-Reductase

Associated Diseases

Smith-Lemli-Opitz Syndrome
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OMIM Number

602858

NCBI Gene ID

1717

Uniprot ID

Q9UBM7

Length

24,676 bases

No. of Exons

9

No. of isoforms

1

Protein Name

7-Dehydrocholesterol Reductase

Molecular Mass

54489 Da

Amino Acid Count

475

Genomic Location

chr11:71,434,410-71,448,392

Gene Map Locus
11q13.4

Description

The DHCR7 gene provides instructions for making an enzyme called 7-dehydrocholesterol reductase.  This enzyme is involved in the last step responsible for cholesterol production in different cell types.  In particular, 7-dehydrocholesterol reductase converts a molecule called 7-dehydrocholesterol to cholesterol.  Mutations in DHCR7 gene reduce the ability of 7-dehydrocholesterol reductase to convert 7-dehydrocholesterol to cholesterol.  As a result of lack of functional enzyme, cholesterol production is low.  In addition, the toxic byproducts of cholesterol production can be accumulated in the blood and other tissues.  The above biochemical abnormalities are likely to disrupt the growth and development of many body systems.

Mutation in the DHCR7 gene cause Smith-Lemli-Opitz syndrome.  

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001360.2:c.1055G>ASaudi Arabiachr11:71435748PathogenicPathogenicSmith-Lemli-Opitz SyndromeNG_012655.2:g.17684G>A; NM_001360.2:c.1055G>A; NP_001351.2:p.Arg352Gln1219097686795
NM_001360.2:c.1055G>TSudanNC_000011.10:g.71435748C>APathogenicSmith-Lemli-Opitz SyndromeNG_012655.2:g.17684G>T; NM_001360.2:c.1055G>T; NP_001351.2:p.Arg352Leu121909768
NM_001360.2:c.1400C>TLebanonchr11:71435403PathogenicSmith-Lemli-Opitz SyndromeNG_012655.2:g.18029C>T; NM_001360.2:c.1400C>T; NP_001351.2:p.Pro467Leu
NM_001360.2:c.861C>ASaudi Arabiachr11:71437914Likely PathogenicPathogenicSmith-Lemli-Opitz SyndromeNG_012655.2:g.15518C>A; NM_001360.2:c.861C>A; NP_001351.2:p.Asn287Lys766495775558708
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