763

DHCR7 Polyclonal Antibody | E-AB-67941

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SKU:
763-E-AB-67941-GEN
NULL357.00 - NULL643.00

Description

DHCR7 Polyclonal Antibody | E-AB-67941 | Gentaur UK, US & Europe Distribution

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

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