7-Dehydrocholesterol Reductase (DHCR7) Antibody
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Description
DHCR7 Antibody is a Rabbit Polyclonal Antibody against DHCR7.
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Product specifications
| Category | Primary Antibodies |
| Immunogen Target | 7-Dehydrocholesterol Reductase (DHCR7) |
| Host | Rabbit |
| Reactivity | Human |
| Recommended Dilution | ELISA: 1 µg/ml, WB: 1/500 - 1/2000. Optimal dilutions/concentrations should be determined by the end user. |
| Clonality | Polyclonal |
| Conjugation | Unconjugated |
| Isotype | IgG |
| Purification | Purified by affinity chromatography. |
| Size 1 | 20 µl |
| Size 2 | 100 µl |
| Size 3 | 2 × 100 µl |
| Form | Liquid |
| Tested Applications | ELISA, WB |
| Buffer | PBS, pH 7.3, containing 0.05% Proclin-300, 50% glycerol. |
| Availability | Shipped within 5-10 working days. |
| Storage | Aliquot and store at -20°C. Avoid repeated freeze/thaw cycles. |
| Dry Ice | No |
| UniProt ID | Q9UBM7 |
| Gene ID | 1717 |
| NCBI Accession | NP_001351.2 |
| Background | Antibody anti-DHCR7 |
| Status | RUO |
| Note | Concentration: > 0.2 mg/ml - |
Descripción
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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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