NDE1

Chr 16AR

nudE neurodevelopment protein 1

Also known as: HOM-TES-87, LIS4, MHAC, NDE, NUDE, NUDE1

NCBI Gene: 54820 ENSG00000072864 UniProt: Q9NXR1 OMIM: 609449

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Lissencephaly 4 (with microcephaly)MIM #614019

MicrohydranencephalyMIM #605013

UniProtLissencephaly 4 with microcephaly

Clinical highlights

Gene-disease validity (ClinGen)

microcephaly with lissencephaly and/or hydranencephaly · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.69

LOEUF

LOF

Mechanism· G2P