034607
Clone Type
PolyclonalHost
RabbitSource
MouseIsotype
IgGGrade
Affinity PurifiedApplications
E IF IHC WBCrossreactivity
MoAccession #
NP_001157289.1; NP_001351.2Gene ID
1717Gene #
DHCR7Shipping Temp
Blue IceStorage Temp
-20°CRabbit Anti-DHCR7, CT (DHCR7, D7SR, 7-dehydrocholesterol reductase, Putative sterol reductase SR-2, Sterol Delta(7)-reductase)
DHCR7, D7SR, 7-dehydrocholesterol reductase, Putative sterol reductase SR-2, Sterol Delta(7)-reductase
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.
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.
Form
Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.
Purity
Purified by Protein A affinity chromatography.
Intended for research use only. Not for use in human, therapeutic, or diagnostic applications.
References
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) :USBio References
No references available