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
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.
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 Biotin.
Specificity：Mouse
Isotype：IgG
Calc Applications Abbrev：E IF 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.
