Product Description
DHCR7 Polyclonal Antibody | E-AB-67941 | Elabscience
Type: Polyclonal Antibody
Synonyms: DHCR7, SLOS
Application: WB
Reactivity: Human
Host: Rabbit
Isotype: IgG
Reserch Areas: Cancer, Cardiovascular, Metabolism, Signal Transduction
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.
Concentration: 1 mg/mL
Storage: Store at -20°C. Avoid freeze / thaw cycles.
Immunogen: Recombinant fusion protein of human DHCR7 (NP_001351.2).
Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3
Purification Method: Affinity purification
Dilution: WB 1:500-1:2000
Clone: N/A
Conjugation: Unconjugated
Molecular Weight(Calculated): 54 kDa
Molecular Weight(Observed): 70 kDa