DHCR7, CT (DHCR7, D7SR, 7-dehydrocholesterol reductase, Putative sterol reductase SR-2, Sterol Delta(7)-reductase)

Size

£696.00

SKU:: 034607
Purity:: Purified by Protein A affinity chromatography.
Storage Conditions:: -20°C
Supplier:: United States Biological
Host:: Rabbit
Immunogen:: DHCR7 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 444-471 amino acids from the C-terminal region of human DHCR7.
Format:: Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.
Extra Details:: 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. Applications: Suitable for use in Western Blot, Immunohistochemistry, Immunofluorescence, ELISA Recommended Dilution: ELISA: 1:1,000 Western Blot: 1:100-500 Immunohistochemistry: 1:50-100 Immunofluorescence: 1:10-50 Storage and Stability: May be stored at 4°C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20°C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Shipping Conditions:: Blue Ice