RCL1

Chr 9

RNA terminal phosphate cyclase like 1

Also known as: RNAC, RPCL1

NCBI Gene: 10171 ENSG00000120158 UniProt: Q9Y2P8 OMIM: 611405

The RCL1 protein functions as an RNA endonuclease that is essential for ribosomal small subunit biogenesis, specifically in the early pre-rRNA processing steps required for proper 18S RNA maturation. Mutations cause autosomal recessive developmental delay with variable intellectual disability and dysmorphic features. This gene shows moderate constraint against loss-of-function variants, suggesting that complete loss of function is not well-tolerated during development.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable RNA endonuclease activity. Involved in ribosomal small subunit biogenesis. Part of small-subunit processome. [provided by Alliance of Genome Resources, Jul 2025]

OMIM 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

0.57

LOEUF

—

Mechanism