Gene Symbol | PUS3 |
Entrez Gene ID | 83480 |
Full Name | pseudouridylate synthase 3 |
Synonyms | 2610020J05Rik,FKSG32,MRT55 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. |
Disorder MIM: | |
Disorder Html: | ?Mental retardation, autosomal recessive 55, 617051 (3) |