OBSL1
Chr 2ARobscurin like cytoskeletal adaptor 1
This gene encodes a cytoskeletal adaptor protein that functions as a core component of the 3M complex, which regulates microtubule dynamics and acts as a regulator of ubiquitin ligase pathways controlling Golgi morphogenesis and dendrite patterning in the brain. Biallelic mutations cause 3-M syndrome type 2, a growth disorder characterized by severe pre- and postnatal growth restriction with distinctive facial features, inherited in an autosomal recessive pattern. The gene shows very low constraint against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OBSL1 · 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