PUS1

Chr 12

pseudouridine synthase 1

Also known as: MLASA1

NCBI Gene: 80324 ENSG00000177192 UniProt: Q9Y606

The protein is a pseudouridine synthase that catalyzes pseudouridylation of tRNAs and mRNAs, modifying uridine residues to stabilize RNA structure and regulate pre-mRNA splicing. Mutations cause mitochondrial myopathy and sideroblastic anemia with autosomal recessive inheritance. The gene shows low constraint to loss-of-function variation, consistent with recessive disease requiring biallelic mutations.

GeneReviews ResearchSummary from RefSeq, UniProt

This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMyopathy with lactic acidosis and sideroblastic anemia 1

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.85

LOEUF

LOF

Mechanism· G2P

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GeneReview available — PUS1