ASPM
Chr 1ARassembly factor for spindle microtubules
Also known as: ASP, Calmbp1, MCPH5
ASPM encodes a protein essential for normal mitotic spindle function in neuroblasts, with a preferential role in regulating neurogenesis during brain development. Mutations cause primary microcephaly type 5, an autosomal recessive disorder characterized by severely reduced brain size. The pathogenic mechanism involves gain-of-function effects that disrupt normal spindle regulation during neuronal cell division.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
ASPM · 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