DHCR7 Rabbit Polyclonal Antibody

CAT#: TA349889

Rabbit Polyclonal Anti-DHCR7 Antibody


USD 345.00

In Stock*

Size
    • 100 ul

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Specifications

Product Data
Applications IHC
Recommended Dilution IHC: 25-100
Positive control: Human colon cancer
Predicted cell location: Cytoplasm
Reactivities Human, Mouse
Host Rabbit
Isotype IgG
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 Store at -20°C as received.
Stability Stable for 12 months from date of receipt.
Gene Name 7-dehydrocholesterol reductase
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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