DHCR7 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	IHC
Recommend Dilution	IHC: 25-100 Positive control: Human colon cancer Predicted cell location: Cytoplasm
Reactivity	Human, Mouse
Host	Rabbit
Clonality	Polyclonal
Immunogen	Fusion protein of human DHCR7
Formulation	pH7.4 PBS, 0.05% NaN3, 40% Glycerol
Concentration	lot specific
Purification	Antigen affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20°C.
Gene Name	7-dehydrocholesterol reductase
Database Link	Entrez Gene 1717 Human 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.
Synonyms	D7SR; SLOS
Reference Data

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