DHCR7 FISH Probe
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Specification
Product Description
Made to order FISH probes for identification of gene amplification using Fluorescent In Situ Hybridization Technique. (Technology).
Origin
Human
Source
Genomic DNA
Reactivity
Human
Notice
We strongly recommend the customer to use FFPE FISH PreTreatment Kit 1 (Catalog #: KA2375 or KA2691) for the pretreatment of Formalin-Fixed Paraffin-Embedded (FFPE) tissue sections.
Regulation Status
For research use only (RUO)
Supplied Product
DAPI Counterstain (1500 ng/mL ) 250 uL
Storage Instruction
Store at 4°C in the dark.
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Applications
Fluorescent In Situ Hybridization (Cell)
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Gene Info — DHCR7
Entrez GeneID
1717Gene 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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