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NDE1
nudE neurodevelopment protein 1
NDE1 is located on the short (p) arm of chromosome 16, at band 16p13.11. Arm ratio per GRCh38 - banding schematic.
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Overview
NDE1 (nudE neurodevelopment protein 1) is located on chromosome 16 and encodes a protein that contributes to fundamental cellular processes, particularly during brain development. The protein interacts with the cellular skeleton to ensure cells divide correctly and that developing neurons reach their intended destinations in the growing brain.
Changes in NDE1 can disrupt these essential processes, leading to neurodevelopmental conditions characterised by abnormal brain structure. Understanding this gene helps explain how cellular organisation during early development influences long-term neurological function.
What the gene does
The NDE1 protein functions as a component of the cellular machinery that organises microtubules, the structural filaments that form the cell's internal framework. During cell division, NDE1 helps position the mitotic spindle, the structure that separates chromosomes into daughter cells. Proper spindle positioning is particularly important in developing brain tissue, where dividing neural progenitor cells must produce neurons that migrate outward to form the layered structure of the cerebral cortex.
Beyond its role in cell division, NDE1 contributes to the transport of cellular components along microtubules. This transport function is essential for maintaining the specialised shape and function of neurons, which extend long processes to connect different brain regions. The protein works in concert with motor proteins and other regulatory factors to ensure cellular cargo reaches its intended destination within the cell.
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Chromosome location
NDE1 is located on the short arm of chromosome 16 at position p13.11, a region designated as 16p13.11. This chromosomal band contains multiple genes involved in neurodevelopment and cellular function. The precise number of exons and detailed genomic structure of NDE1 have been catalogued in genomic databases, though structural complexity varies across different transcript isoforms.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Genetic variants in NDE1 range from single nucleotide changes to larger deletions affecting protein function. Pathogenic variants typically disrupt the protein's ability to interact with microtubules or its binding partners, impairing cellular organisation. The inheritance pattern of NDE1-related conditions varies depending on the specific variant and its functional impact, with some changes acting in a recessive manner requiring two altered copies.
Sample of pathogenic variants
9 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.109C>T | p.Arg37Ter | Pathogenic | ★★☆☆ | Lissencephaly 4 |
c.658C>T | p.Arg220Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Lissencephaly 4 |
c.684_685del | p.Pro229fs | Pathogenic | ★★☆☆ | NDE1-related microhydranencephaly |
GRCh37/hg19 16p13.11(chr16:15758011-15761384) | - | Pathogenic | ★☆☆☆ | Lissencephaly 4 |
c.704-1G>A | - | Pathogenic | ★☆☆☆ | not provided |
c.733dup | p.Leu245fs | Pathogenic | ★☆☆☆ | NDE1-related disorder |
c.83+1G>T | - | Pathogenic | ★☆☆☆ | Lissencephaly 4 |
c.-43-3548_83+622del | - | Pathogenic | - | NDE1-related microhydranencephaly |
c.54G>A | p.Trp18Ter | Pathogenic | - | NDE1-related microhydranencephaly |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Alterations in NDE1 have been associated with neurodevelopmental conditions affecting brain structure and function. These conditions typically manifest during early development and may present with varying degrees of severity. The spectrum of associated phenotypes reflects the protein's essential role in brain formation, particularly the development of the cerebral cortex and the organisation of neurons into functional layers.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the NDE1 protein do in cells?
The NDE1 protein helps organise the cellular skeleton, particularly during cell division when chromosomes must be separated accurately. It also assists in transporting materials within cells, which is especially important for neurons that have long, extended structures requiring precise delivery of cellular components.
How are NDE1 variants inherited?
The inheritance pattern of NDE1-related conditions varies depending on the specific genetic change. Some pathogenic variants require two altered copies (one from each parent) to cause a condition, whilst the mode of inheritance for other variants depends on their functional effect on the protein.
Can NDE1 variants be detected through genetic testing?
Yes, changes in NDE1 can be identified through various genetic testing approaches, including gene panel tests and broader genomic sequencing. Clinical genetic testing is typically arranged through healthcare providers when neurodevelopmental concerns are present.