PUS7

Chr 7

pseudouridine synthase 7

Also known as: IDDABS

NCBI Gene: 54517 ENSG00000091127 UniProt: Q96PZ0

This pseudouridylate synthase catalyzes pseudouridylation of tRNAs, mRNAs, and other RNA types, regulating protein synthesis, pre-mRNA splicing, and embryonic stem cell function. Biallelic mutations cause autosomal recessive intellectual developmental disorder with abnormal behavior, microcephaly, and short stature. The gene shows low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, OMIM, UniProt

Enables enzyme binding activity and tRNA pseudouridine(13) synthase activity. Involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Is active in nucleus. Implicated in intellectual developmental disorder with abnormal behavior, microcephaly, and short stature. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder with abnormal behavior, microcephaly, and short stature

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)

—

P/LP submissions

—

P/LP missense

0.83

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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