DHCR7抗体;DHCR7 Polyclonal Antib

Description 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. Specification Aliases:SLOS Swissprot:Q9UBM7 Host/Isotype:Rabbit IgG Antibody Type:Primary antibody Storage:Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. Species Reactivity:Human, Mouse Immunogen:Fusion protein of human DHCR7 Formulation:pH7.4 PBS, 0.05% NaN3, 40% Glycerol Application IHC:1/25-1/100 ELISA:1/1000-1/2000