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.

推荐稀释比 WB:1/500-1/1000;IHC:1/50-1/100

Immunohistochemistry analysis of paraffin-embedded Human thyroid cancer using DHCR7 antibody. High-pressure and temperature Sodium Citrate pH 6.0 was used for antigen retrieval.

-25 ~ -15℃保存，收到货之后有效期1年，避免反复冻融。