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- Tel: 858.663.9055
- Email: info@nsjbio.com
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.
The stated application concentrations are suggested starting points. Titration of the DHCR7 antibody may be required due to differences in protocols and secondary/substrate sensitivity.
A portion of amino acids 437-463 from the human protein was used as the immunogen for the DHCR7 antibody.
Aliquot the DHCR7 antibody and store frozen at -20oC or colder. Avoid repeated freeze-thaw cycles.
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