UTP23

Chr 8

UTP23 small subunit processome component

Also known as: C8orf53

NCBI Gene: 84294 ENSG00000147679 UniProt: Q9BRU9

UTP23 encodes a protein involved in ribosomal RNA processing and ribosome biogenesis within the nucleolus. Mutations cause autosomal recessive developmental delay with increased adiposity and delayed myelination, typically presenting in infancy with developmental delays and characteristic brain imaging findings. The gene shows moderate tolerance to loss-of-function variants based on population constraint metrics.

ResearchSummary from RefSeq, UniProt

Enables mRNA 3'-UTR binding activity and mRNA 5'-UTR binding activity. Predicted to be involved in rRNA processing. Predicted to act upstream of or within endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to be part of small-subunit processome. Predicted to be active in nucleolus. Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.90

LOEUF

Mechanism· predicted