DHCR7
7-dehydrocholesterol reductase
Synonyms:
SLOS
Species:
Human DHCR7 (1717), Mouse Dhcr7 (13360), Rat Dhcr7 (64191), naked mole-rat Dhcr7 (101703035), Horse DHCR7 (100061433), cow DHCR7 (514745), domestic cat DHCR7 (101089143), chicken DHCR7 (422982), domestic guinea pig Dhcr7 (100732833), sheep DHCR7 (101118320) ...More
UniProtKB ID:
Gene ID:
- Human(1717) Summary: 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.[provided by RefSeq, Aug 2009]
- Mouse(13360) 7-dehydrocholesterol reductase
- Rat(64191) 7-dehydrocholesterol reductase
- naked mole-rat(101703035) 7-dehydrocholesterol reductase
- Horse(100061433) 7-dehydrocholesterol reductase
- cow(514745) 7-dehydrocholesterol reductase
- domestic cat(101089143) 7-dehydrocholesterol reductase
- chicken(422982) 7-dehydrocholesterol reductase
- domestic guinea pig(100732833) 7-dehydrocholesterol reductase
- sheep(101118320) 7-dehydrocholesterol reductase
- dog(483675) 7-dehydrocholesterol reductase
- Zebrafish(378446) 7-dehydrocholesterol reductase
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Antibodies
Product Number
Description
Species Reactivity
Application
Anti-DHCR7 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Species Reactivity
human
Application
immunofluorescence
immunohistochemistry
immunohistochemistry
esiRNA
Product Number
Description
Species