| No | Size | Price | Availability | |
| ARP1717-01 | 50ul | 1500.00 | In Stock |  |
| ARP1717-01 | 100ul | 2000.00 | In Stock | |
| Source: | Rabbit | Gene Id: | 1717 |
| Isotype: | IgG | Swiss Prot: | Q9UBM7 |
| purity: | Affinity purification |
| 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 |
| Reactivity | Human |
| Tested applications | WB IHC |
| Clonality | Polyclonal Antibody |
| Calculated MW | 54 kDa |
| Recommended Dilutions |
WB 1:500-1:2000
IHC 1:50-1:200
|
| Immunogen | Recombinant protein of human DHCR7 |
| Storage | Store at -20°C (regular) or -80°C (long term). Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Synonym | SLOS |
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