基因名：
DKC1
产品别名：
CBF5； DKC； DKCX； NAP57； NOLA4； XAP101； DKC1； dyskerin pseudouridine synthase 1； dyskerin pseudouridine synthase 1； H/ACA ribonucleoprotein complex subunit DKC1； CBF5 homolog； H/ACA ribonucleoprotein complex subunit 4； dyskeratosis congenita 1, dyskerin； nopp140-associated protein of 57 kDa； nucleolar protein NAP57； nucleolar protein family A member 4； snoRNP protein DKC1； 核仁蛋白NAP57； 角化不良蛋白(DKC)；
背景信息：
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).
