Summary:

NameAlazami syndrome (xX:Xm)
Description2'-O-methylation of the U6 snRNA is impaired; it might influence RNA structure formation and thus splicing fidelity.
Related RNA reactionxX:Xm
Found in RNAsnRNA
Modified Transcriptspliceosomal U6 small nuclear RNA
Mapping TechnologyRiboMeth-Seq
Quantification techniquesNone

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
LARP7 La ribonucleoprotein 7, transcriptional regulator None Homo sapiens
 

Publications:

ID Title Authors Journal Details PubMed Id DOI
964 The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness. Daniele Hasler Mol Cell [details] 32017898 -

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