DHCR7 Rabbit Polyclonal Antibody
Other products for "DHCR7"
Specifications
Product Data | |
Applications | IHC |
Recommended Dilution | IHC: 25-100 Positive control: Human colon cancer Predicted cell location: Cytoplasm |
Reactivities | Human, Mouse |
Host | Rabbit |
Isotype | IgG |
Clonality | Polyclonal |
Immunogen | Fusion protein of human DHCR7 |
Formulation | pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
Concentration | lot specific |
Purification | Antigen affinity purification |
Conjugation | Unconjugated |
Storage | Store at -20°C. |
Stability | 1 year |
Database Link | |
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. |
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