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, ELISA
Storage and Stability:Store product at 4°C if to be used immediately within two weeks.
For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20°C.
Aliquots are stable at -20°C for 12 months after receipt.
Dilute required amount only prior to immediate use.
Further dilutions can be made in assay buffer.
Note: Sodium azide is a potent inhibitor of peroxidase and should not be added to HRP conjugates.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Note: Applications are based on unconjugated antibody.
仕様
Size：200ul
Host：rabbit
Source Antibody：mouse
Grade：Affinity Purified
Purity：Purified by Protein A affinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with horseradish peroxidase (HRP).
Specificity：Mouse
Isotype：IgG
Calc Applications Abbrev：E IHC WB
Calc Crossreactivity：Mo
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.
