RPUSD3

Chr 3

RNA pseudouridine synthase D3

NCBI Gene: 285367 ENSG00000156990 UniProt: Q6P087 OMIM: 617759

This gene encodes a pseudouridine synthase that catalyzes pseudouridylation of specific mitochondrial mRNAs and participates in mitochondrial ribosome biogenesis by modifying 16S rRNA. Mutations cause mitochondrial disorders with defects in mitochondrial protein synthesis, typically presenting in early childhood with multisystem involvement including neurological, cardiac, and metabolic features. The gene shows minimal constraint against loss-of-function variants (pLI near 0), and inheritance pattern varies depending on the specific mitochondrial disorder but typically follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.10

LOEUF

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Mechanism