MEDSMDMDMSPLRPQNYLFGCELKADKDYHFKVDNDENEHQLSLRTVSLGAGAKDELHIVEAEAMNYEGSPIKVTLATLKMSVQPTVSLGGFEITPPVVL RLKCGSGPVHISGQHLVAVEEDAESEDEEEEDVKLLSISGKRSAPGGGSKVPQKKVKLAADEDDDDDDEEDDDEDDDDDDFDDEEAEEKAPVKKSIRDTP AKNAQKSNQNGKDSKPSSTPRSKGQESFKKQEKTPKTPKGPSSVEDIKAKMQASIEKGGSLPKVEAKFINYVKNCFRMTDQEAIQDLWQWRKSL
Description | Reaction | Disease Name |
---|---|---|
2′-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. | xX:Xm | Dyskeratosis Congenita |