Product Datasheet  
DHCR7 Antibody  
Catalog Number: 36415  
Technical:tech@swbio.com  
Information:info@swbio.com  
Description  
  • host_species：  
  • Rabbit
  • Amount：  
  • 100μgμg
  • Swiss-Prot No.：  
  • Swiss-Prot#: Q9UBM7
    NCBI Gene ID: 1717
    Gene Accssion: BC000054
  • Form of Antibody：  
  • Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
  • Storage：  
  • Store at -20˚C
  • Immunogen：  
  • Fusion protein corresponding to a region derived from internal residues of human 7-dehydrocholesterol reductase
  • reactivity：  
  • Hu Ms
  • appl_detail：  
  • Immunohistochemistry: 1:25-1:100
  • other_names：  
  • SLOS
  • Purification：  
  • Antigen affinity purification.
  • Specificity：  
  • The antibody detects endogenous levels of total DHCR7 protein.
  • Applications：  
  • IHC
  • 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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