DHCR7 293T Cell Transient Overexpression Lysate(Denatured)
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More Files
- More Functions
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Specification
Transfected Cell Line
293T
Plasmid
pCMV-DHCR7 full-length
Host
Human
Theoretical MW (kDa)
54.5
Quality Control Testing
Transient overexpression cell lysate was tested with Anti-DHCR7 antibody (H00001717-B01) by Western Blots.
SDS-PAGE Gel
DHCR7 transfected lysate.
Western Blot
Lane 1: DHCR7 transfected lysate ( 54.5 KDa)
Lane 2: Non-transfected lysate.Storage Buffer
1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
Storage Instruction
Store at -80°C. Aliquot to avoid repeated freezing and thawing.
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Applications
Western Blot
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Gene Info — DHCR7
Entrez GeneID
1717GeneBank Accession#
NM_001360.1Protein Accession#
-Gene Name
DHCR7
Gene Alias
SLOS
Gene Description
7-dehydrocholesterol reductase
Gene Ontology
HyperlinkGene 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
Other Designations
delta-7-dehydrocholesterol reductase
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Interactome
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Pathway
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Disease
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