A portion of amino acids 437-463 from the human protein was used as the immunogen for the DHCR7 antibody.
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.
Western blot: 1:500-1:2000,Immunohistochemistry (FFPE): 1:25,Immunofluorescence: 1:25
Application Notes:
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.
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