Gene Symbol | RPUSD3 |
Entrez Gene ID | 285367 |
Full Name | RNA pseudouridylate synthase domain containing 3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that functions in the assembly of the mitochondrial ribosome by adding a pseudouridine group to 16S rRNA. Loss of this gene results in causes defects in mitochondrial protein production. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]. |
Disorder MIM: |