DHCR7 Rabbit Polyclonal Antibody
No Size Price Availability  
ARP1717-01 50ul 1500.00 In Stock
ARP1717-01 100ul 2000.00 In Stock
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Source: Rabbit Gene Id: 1717
Isotype: IgG Swiss Prot: Q9UBM7
purity: Affinity purification
Background:
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
Reactivity Human
Tested applications WB IHC
Clonality Polyclonal Antibody
Calculated MW 54 kDa
Recommended Dilutions
WB 1:500-1:2000
IHC 1:50-1:200
Immunogen Recombinant protein of human DHCR7
Storage Store at -20°C (regular) or -80°C (long term). Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Synonym SLOS
This product is for research use only, not for diagnostic or therapeutic use!

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