NDEL1

Chr 17

nudE neurodevelopment protein 1 like 1

Also known as: EOPA, MITAP1, NDE1L1, NDE2, NUDEL

NCBI Gene: 81565ENSG00000166579UniProt: Q9GZM8OMIM: 607538

The NDEL1 protein regulates microtubule organization and dynein motor activity, and is essential for neuronal migration during brain development and neurite outgrowth. Mutations cause neurodevelopmental disorders with intellectual disability and cortical malformations, inherited in an autosomal recessive pattern. This gene is highly constrained against loss-of-function mutations, indicating its critical role in normal development.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.30
Clinical Summary— NDEL1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.30LOEUF
pLI 0.984
Z-score 3.88
OE 0.09 (0.04–0.30)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.66Z-score
OE missense 0.66 (0.57–0.77)
124 obs / 188.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.09 (0.04–0.30)
0≤0.351.4
Missense OE0.66 (0.57–0.77)
0≤0.61.4
Synonymous OE0.88
0≤1.21.6
LoF obs/exp: 2 / 21.3Missense obs/exp: 124 / 188.0Syn Z: 0.84
DN
0.5771th %ile
GOF
0.4085th %ile
LOF
0.70top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.30

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

ClinVar

Protein Context — Lollipop Plot

NDEL1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Increased serum neurodevelopmental biomarker Ndel1 activity in medicated patients with depression is associated with reduced neurite density and neuronal viability independently of intracellular Ndel1 activity.
de Farias IS et al.·J Affect Disord
2026Cohort
Postnatal Mouse Brain Region-Resolved Peptidomic Resource of Conditional Ndel1 Loss: Comparison of Acidic and Alcoholic Extraction Strategies.
Nani JV et al.·J Neurochem
2025Open AccessFunctional
Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.
Tsai MH et al.·Acta Neuropathol
2024Open Access
Sodium nitroprusside as an adjunctive treatment for schizophrenia reduces Ndel1 oligopeptidase activity.
Nani JV et al.·Braz J Psychiatry
2024Open Access
Identification of an ex vivo inhibitor of the schizophrenia biomarker Ndel1 by high throughput screening.
Nani JV et al.·Biochem Pharmacol
2023
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients