DKC1 Polyclonal Antibody, AbBy Fluor™ 488 Conjugated

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 (1) . GAR1, NHP2 and dyskerin localize to the dense fibrillar component of the nucleolus and in nuclear Cajal bodies (2) . The dyskerin gene maps to chromosome Xq28 (3) . Missense mutations in the dyskerin gene interfere with normal nuclear localization of dyskerin and cause Dyskeratosis congenita (DKC) (4) . 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 (5,6) . The NHP2 gene maps to chromosome 5q35.3 and encodes a 155-amino acid protein (2,7) .

CBF5; CBF5 homolog; Cbf5p homolog; DKC 1; DKC; Dkc1; DKC1_HUMAN; DKCX; Dyskeratosis congenita 1; Dyskeratosis congenita 1 dyskerin; Dyskerin; H/ACA ribonucleoprotein complex subunit 4; NAP 57; NAP57; NAP-57; NOLA 4; NOLA4; Nopp140 associated protein of 57 kDa; Nopp140-associated protein of 57 kDa; Nucleolar protein family A member 4; Nucleolar protein NAP57; snoRNP protein DKC1; XAP 101; XAP101.