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Home cDNA Clone TrueORF All DHCR7 ORF Clones

DHCR7 (NM_001163817) Human cDNA ORF Clone

Specifications Citations Clones of Other Species Product Documents
Cat. No. Description Price Availability  
RG228922 DHCR7 (GFP-tagged) - Human 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, 10µg
$590
2-3 weeks
TA150041 2H8, Anti-tGFP monoclonal antibody, 100µl $248 In Stock
Clone Modification
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TrueORF Data for RG228922
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Vector: pCMV6-AC-GFP   Change vector? Tag: C-terminal TurboGFP
Sequence Data: ORF Nucleotide Sequence
Protein Sequence
ORF Size: 1428 bp
Restriction Sites: SgfI-MluI     Cloning Scheme for this gene     Plasmid Map Plasmid Map
OTI Annotation: This clone was engineered to express the complete ORF with an expression tag.
OTI Disclaimer: The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
Product Components: The ORF clone is ion-exchange column purified, transfection-ready dried plasmid DNA, and shipped with 2 vector sequencing primers.
Protein Families: TransmembraneDruggable Genome
Protein Pathways: Steroid biosynthesisMetabolic pathways

Reference Data
RefSeq: NM_001163817.1, NP_001157289
RefSeq Size: RefSeq ORF: 1428
Synonyms : SLOS
LocusID: 1717 Cytogenetic: 11q13.4
Summary: This gene encodes an 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.[provided by RefSeq, Aug 2009].

 

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