RSL1D1
Chr 16ribosomal L1 domain containing 1
Also known as: CSIG, Cic1, L12, PBK1, UTP30
RSL1D1 encodes a protein that binds mRNA and regulates cellular senescence by inhibiting PTEN translation, while also functioning as a pro-apoptotic regulator during DNA damage responses. Mutations cause autosomal recessive developmental delay, seizures, and brain malformations including microcephaly and cortical dysplasia. The gene shows no constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RSL1D1 · 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