FSAF1
Chr 140S small subunit processome assembly factor 1
Also known as: C1orf131
FSAF1 encodes a protein that is part of the small subunit processome involved in ribosome biogenesis, where it helps coordinate the assembly and processing of ribosomal RNA precursors in the nucleolus. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, seizures, and brain malformations. This condition presents in early infancy with severe developmental delays and progressive neurological deterioration.
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
66 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 36 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 11 |
Likely Benign | — | — | — | — | 2 |
Benign | — | — | — | — | 1 |
| Total | — | 52 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FSAF1 · 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 publications found for FSAF1
External Resources
Links to major genomics databases and tools