DHCR7 Rabbit Polyclonal Antibody

SKU TA349889

Rabbit Polyclonal Anti-DHCR7 Antibody

Product Data

• Application: IHC
• Recommended Dilution: IHC: 25-100; Positive control: Human colon cancer; Predicted cell location: Cytoplasm
• Reactivity: Human, Mouse
• Antibody Host: Rabbit
• Isotype: IgG
• Clonality: Polyclonal
• Immunogen: Fusion protein of human DHCR7
• Buffer: 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.
• Shipping: Blue Ice
• Gene Name: 7-dehydrocholesterol reductase
• Database Link:
  NP_001351
  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