RPL7A
Chr 9ribosomal protein L7a
Also known as: L7A, SURF3, TRUP, eL8
The protein is a component of the large 60S ribosomal subunit that catalyzes protein synthesis and can also interact with nuclear hormone receptors to inhibit their transcriptional activity. Mutations cause developmental delays, intellectual disability, and growth retardation through an autosomal dominant inheritance pattern with high penetrance. The pathogenic mechanism involves loss-of-function mutations that disrupt ribosomal protein production, leading to impaired protein synthesis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RPL7A · 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