GRSF1
Chr 4G-rich RNA sequence binding factor 1
GRSF1 encodes a regulator of post-transcriptional mitochondrial gene expression that binds G-rich RNA elements and is required for mitochondrial ribosome assembly and recruitment of mitochondrial mRNAs and long non-coding RNAs. Mutations cause mitochondrial neurodegeneration, cataracts, and hearing loss with infantile onset, following autosomal recessive inheritance. The gene shows no constraint against loss-of-function variants (pLI near zero), consistent with recessive disease causation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
131 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 21 | 0 | 21 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 68 | 10 | 0 | 78 |
Likely Benign | 0 | 3 | 1 | 2 | 6 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 0 | 71 | 34 | 3 | 108 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GRSF1 · 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