|Other Names||7-dehydrocholesterol reductase, 7-DHC reductase, Putative sterol reductase SR-2, Sterol Delta(7)-reductase, DHCR7, D7SR|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).|
|Cellular Location||Endoplasmic reticulum membrane; Multi-pass membrane protein|
|Tissue Location||Most abundant in adrenal gland, liver, testis, and brain.|
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This gene encodes an enzyme that removes the C(7-8) doublebond in the B ring of sterols and catalyzes the conversion of7-dehydrocholesterol to cholesterol. This gene is ubiquitouslyexpressed and its transmembrane protein localizes to theendoplasmic reticulum membrane and nuclear outer membrane.Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); asyndrome that is metabolically characterized by reduced serumcholesterol levels and elevated serum 7-dehydrocholesterol levelsand phenotypically characterized by mental retardation, facialdysmorphism, syndactyly of second and third toes, andholoprosencephaly in severe cases to minimal physical abnormalitiesand near-normal intelligence in mild cases. Alternative splicingresults in multiple transcript variants that encode the sameprotein.
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Koo, G., et al. Am. J. Med. Genet. A 152A (8), 2094-2098 (2010) :Wang, T.J., et al. Lancet 376(9736):180-188(2010)Ahn, J., et al. Hum. Mol. Genet. 19(13):2739-2745(2010)Jugessur, A., et al. PLoS ONE 5 (7), E11493 (2010) :
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