NDE1
Chr 16ARnudE neurodevelopment protein 1
Also known as: HOM-TES-87, LIS4, MHAC, NDE, NUDE, NUDE1
The protein localizes to the centrosome and regulates dynein function as part of a multiprotein complex essential for microtubule organization, mitosis, and neuronal migration. Autosomal recessive mutations cause lissencephaly 4, characterized by lissencephaly, severe brain atrophy, microcephaly, and severe cognitive disability, as well as microhydranencephaly. The pathogenic mechanism involves disruption of normal neuronal migration during brain development.
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
NDE1 · 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