DHCR7 Antibody
CSB-PA110763
ApplicationsELISA, ImmunoHistoChemistry
Product group Antibodies
ReactivityHuman, Mouse
Overview
- SupplierCusabio
- Product NameDHCR7 Antibody
- Delivery Days Customer20
- ApplicationsELISA, ImmunoHistoChemistry
- CertificationResearch Use Only
- ClonalityPolyclonal
- ConjugateUnconjugated
- HostRabbit
- IsotypeIgG
- Scientific DescriptionThis 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.
- ReactivityHuman, Mouse
- Storage Instruction-20°C or -80°C
- UNSPSC12352203