Recombinant multi-species DHCR7/ SLOS protein for cell curture, in vitro study, in vivo study, benchmark, drug discovery & MOA research and positive control for the diagnosis

Genemedi produces recombinant Human, Cynomolgus/ Rhesus macaque, Rat, Mouse, Feline, Canine, Bovine, Equine DHCR7 protein for cell curture, in vitro study, in vivo study, benchmark, drug discovery & MOA research and positive control for the diagnosis.

The target: DHCR7, gene name: DHCR7, also named as SLOS. 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 cognitive disability, 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].

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