84-2326-21　［取扱停止］Dyskerin (H/ACA Ribonucleoprotein Complex Subunit 4, CBF5 Homolog, Dyskerin, Nopp140-Associated Protein of 57kD, Nucleolar Protein NAP57, Nucleolar Protein Family A Member 4, snoRNP Protein DKC1, DKC1, NOLA4) 100ul　222267

特徴

• Dyskerin (NAP57) associates with the chaperone protein Nopp140 and forms a small ribonucleoprotein particle with GAR1 (NOLA1), NHP2 (NOLA2) and Nop10 for the isomerization of uridine to pseudouridine.
• GAR1, NHP2 and Dyskerin localize to the dense fibrillar component of the nucleolus and in nuclear Cajal bodies.
• The Dyskerin gene maps to chromosome Xq28.
• Missense mutations in the Dyskerin gene interfere with normal nuclear localization of Dyskerin and cause Dyskeratosis congenita (DKC).
• DKC is a rare, X-linked bone marrow disorder characterized by cutaneous hyperpigmentation, dystrophy of the nails, atrophy of the testicles and leukoplakia of the oral mucosa.
• The GAR1 gene maps to chromosome 4q25 and encodes a 28kDa protein.
• The NHP2 gene maps to chromosome 5q35.3 and encodes a 155 amino acid protein
• Applications:Suitable for use in Immunofluorescence, Western Blot, Immunohistochemistry.
• Other applications not tested.
• Recommended Dilution:Western Blot: 1:500-1:1000Immunohistochemistry: 1:50-1:200Immunofluorescence: 1:50-1:200Optimal 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.