产品详情
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Product Name
DHCR7 Rabbit pAb
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Gene ID
1717
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SwissProt ID
Q9UBM7
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Gene Name
DHCR7
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Alternative Names
SLOS
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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.
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Research Field
Cardiovascular
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Product Categories
Primary antibody
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Host
Rabbit
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Reactivity
Human,Mouse
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Application
WB,IHC-P
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Dilution Ratio
WB: 1/500-1/1000 IHC: 1/50-1/100
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Molecular Weight
Calculated MW: 54 kDa
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Clonality
Polyclonal Antibody
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Clonality No.
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Isotype
IgG
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Immunogen
Fusion protein of human DHCR7
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Purification
Affinity Purified
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Conjugation
Unconjugated
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Modification
Unmodified
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Form
Liquid
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Buffer System
pH 7.4 PBS, 0.05% NaN3, 40% Glycerol
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Storage
Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.
应用缩写
WB:蛋白质印迹法IHC-P:石蜡切片样本的免疫组织化学法IHC-F:冰冻切片样本的免疫组织化学法ICC/IF:免疫细胞荧光 IP:免疫沉淀法FC:流式细胞术ChIP:染色质免疫沉淀法ELISA:酶联免疫吸附测定
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