Anti-DHCR7 Rabbit Polyclonal Antibody
Product Information
Downloads & Supports
Target
-
DHCR7
Host
Storage
-
Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.
Clonality
Clone Number
-
-
Isotype
-
IgG
Reactivity
Application
Application Details
-
IHC: 1/50-1/100
Immunogen
-
Fusion protein of human DHCR7
Molecular Weight
-
-
Formulation
-
pH 7.4 PBS, 0.05% NaN3, 40% Glycerol
Form
-
Liquid
Gene ID
-
1717
Uniprot ID
-
Q9UBM7
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
-
Cardiovascular
Synonyms
-
SLOS