84-4430-14　NPC2 (Niemann Pick Disease Type C2, HE1, NP-C2, EDDM1, Epididymal Protein 1, Human epididymis-specific protein 1, Epididymal secretory protein E1) 200ul　364405

特徴

• Mutations in the NPC2 gene associated with Niemann-Pick disease type C2 cause abnormally high cholesterol accumulation in cells.
• NPC2, a secreted soluble protein, binds cholesterol specifically with a much higher affinity than previously reported.
• Genetic and biochemical studies identified single amino acid changes that prevent both cholesterol binding and the restoration of normal cholesterol levels in mutant cells
• The amino acids that affect cholesterol binding surround a hydrophobic pocket in the NPC2 protein structure, identifying a candidate sterol-binding location.
• On the basis of evolutionary analysis and mutagenesis, 3 other regions of the NPC2 protein emerged as important, including 1 required for efficient secretion.
• Applications:Suitable for use in ELISA, Western Blot, Immunohistochemistry, Immunocytochemistry.
• Other applications not tested.
• Recommended Dilution:ELISA: 1:100-1:5000 Western Blot: 1:50-400 Immunohistochemistry (frozen): 1:50-500 Immunohistochemistry (paraffin): 1:10-100 Immunocytochemistry: 1:50-500 Optimal dilutions to be determined by the researcher.
• Storage and Stability:May be stored at 4°C for short-term only.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20°C.
• Aliquots are stable for 12 months after receipt.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.