TSR3

Chr 16

TSR3 ribosome maturation factor

Also known as: C16orf42, HsTsr3

NCBI Gene: 115939 ENSG00000007520 UniProt: Q9UJK0 OMIM: 617058

TSR3 encodes an aminocarboxypropyltransferase that catalyzes the final step in creating a hypermodified pseudouridine residue in 18S ribosomal RNA, essential for ribosome biogenesis. Mutations cause autosomal recessive intellectual disability with microcephaly and growth retardation, typically presenting in infancy with developmental delays and failure to thrive. This gene shows tolerance to loss-of-function variants in the general population, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Enables rRNA small subunit aminocarboxypropyltransferase activity. Involved in enzyme-directed rRNA pseudouridine synthesis. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.15

LOEUF

Mechanism· predicted