Product Name | DHCR7 Antibody |
---|---|
Description | Rabbit polyclonal antibody to DHCR7 |
Synonyms | DHCR7 antibody; D7SR antibody; 7-dehydrocholesterol reductase antibody; 7-DHC reductase antibody; EC 1.3.1.21 antibody; Delta7-sterol reductase antibody; Sterol Delta(7)-reductase antibody; Sterol reductase SR-2 antibody |
Host | Rabbit |
Clonality | Polyclonal |
Conjugate | Unconjugated |
Immunogen | Fusion protein of human DHCR7 |
Isotype | IgG |
Target | DHCR7 |
Reactivity | Human, Mouse |
Applications | ELISA, IHC |
Form | Liquid |
Diluent Buffer | -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
Uniprot | Q9UBM7 |
Storage | Upon receipt, store at -20°C or -80°C. Avoid repeated freeze. |
Background | 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. |
Supplier | Cusabio |
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