GEMIN8
Chr Xgem nuclear organelle associated protein 8
Also known as: FAM51A1
The protein is a component of the SMN complex that catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), which are essential building blocks of the spliceosome required for pre-mRNA splicing. GEMIN8 mutations cause spinal muscular atrophy with respiratory distress type 1, an autosomal recessive neuromuscular disorder with onset in infancy. The gene is highly constrained against loss-of-function variants, indicating critical importance for normal cellular function.
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
133 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 | 69 | 0 | 69 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 25 | 4 | 0 | 29 |
Likely Benign | 0 | 4 | 0 | 3 | 7 |
Benign | 0 | 1 | 1 | 1 | 3 |
| Total | 0 | 30 | 75 | 4 | 109 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GEMIN8 · 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