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021-54845833/15800441009
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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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Applications: |
ELISA, IHC |
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Name of antibody: |
DHCR7 |
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Immunogen: |
Fusion protein of human DHCR7 |
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Full name: |
7-dehydrocholesterol reductase |
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Synonyms： |
SLOS |
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SwissProt: |
Q9UBM7 |
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ELISA Recommended dilution: |
1000-2000 |
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IHC positive control: |
Human colon cancer and human thyroid cancer |
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IHC Recommend dilution: |
25-100 |
