479302
DHCR7 (7-Dehydrocholesterol Reductase)
Size
£614.00
- SKU:
- 479302
- Application:
- WB
- Purity:
- Purified by affinity chromatography.
- Storage Conditions:
- -20°C
- Supplier:
- United States Biological
- Host:
- Rabbit
- Immunogen:
- Synthetic peptide corresponding to the N-terminal region of human DHCR7
- Format:
- Supplied as a liquid in PBS, 2% sucrose, 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. Other applications not tested. Recommended Dilution: Optimal dilutions to be determined by the researcher. 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 after receipt. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
- Shipping Conditions:
- Blue Ice