Anti-DHCR7 Polyclonal Antibody, 50.0ul

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.

• Size: 50.0ul
• Molecular Weight: 54kDa
• Physical State: Liquid
• Storage: Store at -20℃. Avoid freeze / thaw cycles.
• Application: IHC
• Brand: Saint Michael
• Catalogue No.: K113562P-50.0ul

For laboratory research use only. Not for human or animal consumption, diagnostic or therapeutic use.