Summary:

NameNonsyndromic X-Linked Intellectual Disability (xX:Xm)
Description2’-O-methylation of tRNAPhe may impact the development.
Related RNA reactionxX:Xm
Found in RNAtRNA
Modified TranscriptGm34
Mapping TechnologyNone
Quantification techniquesNone

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
FTSJ1 FtsJ RNA methyltransferase homolog 1 None Homo sapiens
 

Publications:

ID Title Authors Journal Details PubMed Id DOI
1096 Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. Michael P Guy Hum Mutat [details] 26310293 10.1002/humu.22897

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