Gene Symbol | EMG1 |
Entrez Gene ID | 10436 |
Full Name | EMG1, N1-specific pseudouridine methyltransferase |
Synonyms | C2F,Grcc2f,NEP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. |
Disorder MIM: | |
Disorder Html: | Bowen-Conradi syndrome, 211180 (3) |