RCL1
Chr 9RNA terminal phosphate cyclase like 1
Also known as: RNAC, RPCL1
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RCL1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools