The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
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 28 kDa protein. The NHP2 gene maps to chromosome 5q35.3 and encodes a 155 amino acid protein
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: CBF5 homolog; DKC1; dyskeratosis congenita 1, dyskerin; dyskeratosis congenita 1, dyskerin homolog; Dyskerin; H/ACA ribonucleoprotein complex subunit 4; H/ACA ribonucleoprotein complex subunit DKC1; NOLA4; Nopp140-associated protein of 57 kDa; Nucleolar protein family A member 4; Nucleolar protein NAP57; snoRNP protein DKC1
Gene Aliases: BC068171; CBF5; DKC; DKC1; DKCX; NAP57; NOLA4; XAP101