|Calculated MW||H=54;M=54 KDa|
|Antigen Region||437-463 aa|
|Other Names||7-dehydrocholesterol reductase, 7-DHC reductase, Putative sterol reductase SR-2, Sterol Delta(7)-reductase, DHCR7, D7SR|
|Target/Specificity||This DHCR7 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 437-463 amino acids from the C-terminal region of human DHCR7.|
|Storage||Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||DHCR7 Antibody (C-term) is for research use only and 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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Provided below are standard protocols that you may find useful for product applications.
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.
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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