SMU1
Chr 9SMU1 DNA replication regulator and spliceosomal factor
Also known as: BWD, SMU-1, fSAP57
SMU1 encodes a protein that functions as a component of the spliceosome and is required for pre-mRNA splicing, mitotic spindle assembly, and normal progression through mitosis. Mutations cause autosomal recessive congenital pontocerebellar hypoplasia with microcephaly, typically presenting in the neonatal period with severe developmental delays and neurological impairment. This gene is highly constrained against loss-of-function variants, indicating that functional copies are essential for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
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
SMU1 · 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