Human DHCR7 (7-dehydrocholesterol reductase) ELISA Kit | DHCR7 elisa kit
Human DHCR7 (7-dehydrocholesterol reductase) ELISA Kit
Inter-Assay: CV<10%
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).
Research Articles on DHCR7
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Product Notes
The Human DHCR7 dhcr7 (Catalog #AAA7612655) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7612655 ELISA Kit recognizes Human DHCR7. It is sometimes possible for the material contained within the vial of "DHCR7 (7-dehydrocholesterol reductase), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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