H/ACA ribonucleoprotein complex subunit 4 (UniProt: O60832; also known as CBF5 homolog, Dyskerin, Nopp140-associated protein of 57 kDa, Nucleolar protein NAP57, Nucleolar protein family A member 4, snoRNP protein DKC1) is encoded by the DKC1 (also known as NOLA4) gene (Gene ID: 1736) in human. Dyskerin is a highly conserved nucleolar protein that is involved with multiple cellular functions, such as protein expression, growth, proliferation, and nucleo-cytoplasmic shuttling. It helps in the stabilization of the telomerase RNA component, which allows for the proper functioning of telomerase enzymatic complex. It also modifies specific uridine residues of ribosomal RNA by converting them to pseudouridine, thus allowing proper ribosome processing and function. Point mutations in the DKC1 gene result in a rare inherited syndrome called X-linked dyskeratosis congenita, which is leads to early mortality due to progressive bone marrow failure and is characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. (Ref.: Montanaro, L (2010). J. Pathol. 222(4): 345-9).，官网链接：https://www.sigmaaldrich.cn/product/mm/abe2587m 默克 科研、开发、生产。 作为生命科学行业的全球领先供应商，我们致力于为科研、生物技术开发和生产，以及制药药物疗法开发和生产提供各类解决方案和服务。

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