PUS3

Chr 11AR

pseudouridine synthase 3

Also known as: 2610020J05Rik, DEG1, FKSG32, MRT55, NEDMIGS

NCBI Gene: 83480 ENSG00000110060 UniProt: Q9BZE2 OMIM: 616283

This gene encodes pseudouridine synthase 3, which catalyzes the formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with microcephaly and gray sclerae. The gene shows high constraint against loss-of-function variants (LOEUF 1.115), indicating intolerance to haploinsufficiency in the general population.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with microcephaly and gray scleraeMIM #617051

Clinical highlights

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)

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P/LP submissions

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P/LP missense

1.11

LOEUF

LOF

Mechanism· G2P