RPP25L
Chr 9ribonuclease P/MRP subunit p25 like
Also known as: C9orf23, bA296L22.5
This protein may function as a component of ribonuclease P or MRP, enzymes involved in RNA processing. Mutations in RPP25L cause autosomal recessive microcephaly, short stature, and intellectual disability. The gene shows moderate constraint against loss-of-function variants, suggesting some intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RPP25L · 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 →No open access results found
External Resources
Links to major genomics databases and tools