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% Glyceroln
Concentration	lot specific
Purification	Antigen affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20°C as received.
Gene Name	7-dehydrocholesterol reductase
Database Link	NP_001351 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	SLOS
Reference Data
Protein Families	Druggable Genome, Transmembrane
Protein Pathways	Metabolic pathways, Steroid biosynthesis

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