NameDyskeratosis Congenita (xX:Xm)
Description2′-O-Me-regulated translation is important for cellular growth, differentiation, and hematopoietic stem cell maintenance. Aberrant 2'O-Me is induced by mutations in NPM1 observed in patients with dyskeratosis congenita.
Related RNA reactionxX:Xm
Found in RNArRNA
Modified Transcript28S rRNA (1327, 3764, 3866, 3904, 4198)
Mapping TechnologyNone
Quantification techniquesRTL-P

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
NPM1 nucleophosmin 1 None Homo sapiens


ID Title Authors Journal Details PubMed Id DOI
1011 Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita. Daphna Nachmani Nat Genet [details] 31570891 10.1038/s41588-019-0502-z

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