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7-Dehydrocholesterol Reductase (DHCR7)

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DHCR-7; SLOS; D7SR; Smith-Lemli-Opitz Syndrome; Putative sterol reductase SR-2; Sterol Delta(7)-reductase

7-Dehydrocholesterol Reductase (DHCR7)
CCC C270
HGNC 2860
MGI 1298378
PubMed 12914579
RGD 621769
UniProt Q9UBM7
Wiki DHCR7
7-dehydrocholesterol reductasean enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC270Hu01 Recombinant 7-Dehydrocholesterol Reductase (DHCR7) Positive Control; Immunogen; SDS-PAGE; WB.
CPC270Hu21 OVA Conjugated 7-Dehydrocholesterol Reductase (DHCR7) Immunogen; SDS-PAGE; WB.
RPC270Hu02 Recombinant 7-Dehydrocholesterol Reductase (DHCR7) Positive Control; Immunogen; SDS-PAGE; WB.
APC270Hu01 Active 7-Dehydrocholesterol Reductase (DHCR7) Cell culture; Activity Assays.
Antibodies PAC270Hu01 Polyclonal Antibody to 7-Dehydrocholesterol Reductase (DHCR7) WB; IHC; ICC; IP.
MAC270Hu22 Monoclonal Antibody to 7-Dehydrocholesterol Reductase (DHCR7) WB; IHC; ICC; IP.
Assay Kits SEC270Hu ELISA Kit for 7-Dehydrocholesterol Reductase (DHCR7) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant 7-Dehydrocholesterol Reductase (DHCR7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to 7-Dehydrocholesterol Reductase (DHCR7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to 7-Dehydrocholesterol Reductase (DHCR7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for 7-Dehydrocholesterol Reductase (DHCR7) CLIA Kit Customized Service Offer
n/a ELISA Kit for 7-Dehydrocholesterol Reductase (DHCR7) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant 7-Dehydrocholesterol Reductase (DHCR7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to 7-Dehydrocholesterol Reductase (DHCR7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to 7-Dehydrocholesterol Reductase (DHCR7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for 7-Dehydrocholesterol Reductase (DHCR7) CLIA Kit Customized Service Offer
n/a ELISA Kit for 7-Dehydrocholesterol Reductase (DHCR7) ELISA Kit Customized Service Offer
  1. "Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene."Am. J. Hum. Genet. 63:329-338(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Molecular cloning and expression of the human delta7-sterol reductase."Proc. Natl. Acad. Sci. U.S.A. 95:1899-1902(1998) [PubMed] [Europe PMC] [Abstract]
  3. "The human lamin B receptor/sterol reductase multigene family."Genomics 54:469-476(1998) [PubMed] [Europe PMC] [Abstract]
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  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome."Am. J. Hum. Genet. 63:55-62(1998) [PubMed] [Europe PMC] [Abstract]
  7. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  8. "Large-scale proteomics analysis of the human kinome."Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
  9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  11. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  12. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  13. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
  14. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  15. "Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome."Proc. Natl. Acad. Sci. U.S.A. 95:8181-8186(1998) [PubMed] [Europe PMC] [Abstract]
  16. "Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome."Am. J. Hum. Genet. 66:402-412(2000) [PubMed] [Europe PMC] [Abstract]
  17. "Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping."Am. J. Med. Genet. 94:214-227(2000) [PubMed] [Europe PMC] [Abstract]
  18. "Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome."Ann. Hum. Genet. 65:229-236(2001) [PubMed] [Europe PMC] [Abstract]
  19. "Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations."Eur. J. Hum. Genet. 9:45-50(2001) [PubMed] [Europe PMC] [Abstract]
  20. "Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome."Am. J. Med. Genet. A 122:24-29(2003) [PubMed] [Europe PMC] [Abstract]
  21. "Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)."Hum. Mutat. 26:59-59(2005) [PubMed] [Europe PMC] [Abstract]