MACF1
Chr 1ADmicrotubule actin crosslinking factor 1
Also known as: ABP620, ACF7, KIAA0754, LIS9, Lnc-PMIF, MACF, OFC4
This protein cross-links actin filaments to microtubules and other cytoskeletal elements, playing essential roles in cytoskeletal organization, focal adhesion dynamics, and neurite development during brain formation. Mutations cause lissencephaly 9 with complex brainstem malformation, a severe early-onset brain malformation syndrome. The gene follows autosomal dominant inheritance and is highly constrained against loss-of-function variants (pLI = 1.0), reflecting its critical role in normal development.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MACF1 · 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