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DHCR7 is 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.
Gene Name: | 7-dehydrocholesterol reductase |
Synonyms: | DHCR7, 7-dehydrocholesterol reductase, 7-DHC reductase, D7SR, Delta7-sterol reductase, SLOS, Sterol delta-7-reductase, Putative sterol reductase SR-2, Smith-Lemli-Opitz syndrome, Sterol Delta(7)-reductase |
Target Sequences: | NM_001360 NP_001351.2 Q9UBM7 |
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