TSR1

Chr 17

TSR1 ribosome maturation factor

NCBI Gene: 55720 ENSG00000167721 UniProt: Q2NL82

The TSR1 protein is required for maturation of the 40S ribosomal subunit in the nucleolus through RNA binding and processing of ribosomal RNA transcripts. Mutations cause autosomal recessive intellectual disability with congenital malformations and dysmorphic facies, typically presenting in early infancy with developmental delays and distinctive facial features. This gene is highly intolerant to loss-of-function variants, reflecting its essential role in ribosome biogenesis.

ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Predicted to be involved in endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) and maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.12

LOEUF

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Mechanism

Some data sources returned errors (1)