DHCR7 Polyclonal Antibody

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.

Research Area: Cancer, Cardiovascular, Metabolism, Signal Transduction

Synonyms:
DHCR7, SLOS

Immunogen: Recombinant fusion protein of human DHCR7 (NP_001351.2).

Swissprot: Q9UBM7
Gene ID: 1717

Calculated MW: 54 kDa
Observed MW: 70 kDa

Purification Method: Affinity purification

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3

Concentration: 1 mg/mL
Dilution: "WB 1:500-1:2000"

Storage:
Store at -20°C. Avoid freeze / thaw cycles.