Summary:

Name	Alazami syndrome (N:Nm)
Description	2'-O-methylation of the U6 snRNA is impaired; it might influence RNA structure formation and thus splicing fidelity.
Related RNA reaction	N:Nm
Found in RNA	snRNA
Modified Transcript	spliceosomal U6 small nuclear RNA
Mapping Technology	RiboMeth-Seq
Quantification techniques	None

Enzymes connected to Alazami syndrome:

Acronym	Full name	Enzyme Role	Organism	Comment
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,Rajyalakshmi Meduri,Maciej Bąk,Gerhard Lehmann,Leonhard Heizinger,Xin Wang,Zhi-Tong Li,François M Sement,Astrid Bruckmann,Anne-Catherine Dock-Bregeon,Rainer Merkl,Reinhard Kalb,Eva Grauer,Erdmute Kunstmann,Mihaela Zavolan,Mo-Fang Liu,Utz Fischer,Gunter Meister	Mol Cell	[details]	32017898	-