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)

Antibodies / Antibodies-Disease Markers

-20°C

Supplied as a liquid PBS,  0.1% sodium azide,  50% glycerol.

Recombinant full length Human Dyskerin.

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. The NHP2 gene maps to chromosome 5q35.3 and encodes a 155-amino acid protein.

Applications:
Suitable for use in Western Blot, Immunohistochemistry. Other applications not tested.

Recommended Dilution:
Western Blot: 1:500-1:2000
Immunohistochemistry: 1:50-1:200
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.