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Official Symbol: | DHCR7 |
NCBI Gene ID: | 1717 |
Aliases: |
SLOS |
Official Full Name: | 7-dehydrocholesterol reductase |
Species: | human |
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 cognitive disability, 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]. |
There is no existing raPOOL for your gene, hence a custom raPOOL set up service is required. Please add this to cart and proceed to choose the raPOOL scale required where 2, 5 or 10 nmol is sufficient for 20, 50 or 100 reactions with the recommended use of 100 pmol raPOOL per reaction.
Custom raPOOL Set Up Service
One-time raPOOL set up fee for a new gene. Price: € 529,00 |
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Includes design of new probes against target RNA. Charged on top of raPOOL 2, 5 or 10 price. Charged once only, subsequent order of raPOOL follows raPOOL-2, 5 or 10 pricing. |
raPOOL 10
10nmol raPOOL Price: € 1.155,00 |
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Amount provided: 10 nmol. Sufficient for 100 reactions. HPLC-purified, freeze-dried. |
raPOOL 2
2nmol raPOOL Price: € 325,00 |
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Amount provided: 2 nmol. Sufficient for 20 rxns. HPLC-purified, freeze-dried. |
raPOOL 5
5 nmol raPOOL Price: € 675,00 |
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Amount provided: 5 nmol. Sufficient for 50 reactions. HPLC-purified, freeze-dried. |