{"product_id":"f54352-0-4ml","title":"DHCR7 Antibody","description":"\u003cp\u003eThis 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.\u003c\/p\u003e","brand":"NSJ Bioreagents","offers":[{"title":"0.4 ml \/ Rabbit","offer_id":49477142151448,"sku":"F54352-0.4ML","price":429.0,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0590\/5652\/1400\/files\/get_image_d421214c-8371-466c-afec-c9dca66b5fbf.jpg?v=1734491825","url":"https:\/\/danabiosci.com\/products\/f54352-0-4ml","provider":"Dana Bioscience","version":"1.0","type":"link"}