Name | Nonsyndromic X-Linked Intellectual Disability (N:Nm) |
Description | 2’-O-methylation of tRNAPhe may impact the development. |
Related RNA reaction | N:Nm |
Found in RNA | tRNA |
Modified Transcript | Gm34 |
Mapping Technology | None |
Quantification techniques | None |
Acronym | Full name | Enzyme Role | Organism | Comment |
---|---|---|---|---|
FTSJ1 | Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase | None | Homo sapiens |
ID | Title | Authors | Journal | Details | ||
---|---|---|---|---|---|---|
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 |