Clone Name: HL3854
Light Chain: Kappa
Application Note: WB: 1:500-1:3000. *Optimal dilutions/concentrations should be determined by the researcher.Not tested in other applications.
Form: Liquid
Buffer (with preservative): PBS, no preservative.
Concentration: 1 mg/ml
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 cognitive disability, 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.[provided by RefSeq, Aug 2009]
Uniprot ID: Q9UBM7
Antigen Species: Human
Immunogen: Synthetic peptide of human DHCR7.
Purification: Affinity purified by Protein A.
Conjugation: Unconjugated
Full Name: 7-dehydrocholesterol reductase
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