DHCR7 Polyclonal Antibody

Rs. 16,500.00
SKU E-AB-14951

Overview

Synonyms 7 dehydrocholesterol reductase,7 DHC reductase,Delta 7 dehydrocholesterol reductase,Putative sterol reductase SR 2,SLOS,Sterol delta 7 reductase,Sterol Delta
Swissprot Q9UBM7
Source Rabbit
Reactivity Human,Mouse
Immunogen Recombinant protein of human DHCR7
Application IHC,ELISA
Recommended dilution IHC 1:25-1:100
Concentration 0.2mg/mL
Clonality Polyclonal

Properties

Cellular localization  
Tissue specificity  
Isotype IgG
Purification Affinity purification
Conjugation Unconjugated
Storage instructions Store at -20℃. Avoid freeze / thaw cycles.
Storage buffer PBS with 0.05% sodium azide, 50% glycerol, PH7.3
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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