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NDE1

Chr 16p13.11

nudE neurodevelopment protein 1

Aliases:
nudE, FLJ20101, NDE
MANE:
ENST00000396354.6

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Malformations of cortical development

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal
  • Cerebral vascular malformations

  • Inherited white matter disorders

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • lissencephaly 4

    0.75
  • NDE1-related microhydranencephaly

    0.63
  • aortic aneurysm, familial thoracic 4

    0.55
  • microlissencephaly

    0.52
  • familial thoracic aortic aneurysm and aortic dissection

    0.50
  • megacystis-microcolon-intestinal hypoperistalsis syndrome 2

    0.49
  • visceral myopathy 2

    0.45
  • hydranencephaly

    0.38
  • Lissencephaly

    0.38
  • lissencephaly spectrum disorders

    0.38

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Nuclear distribution protein nudE homolog 1

Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two proliferative neuronal progenitors whereas parallel orientation of the division plane yields one proliferative neuronal progenitor and a postmitotic neuron. A premature shift towards a neuronal fate within the progenitor population may result in an overall reduction in the final number of neurons and an increase in the number of neurons in the deeper layers of the cortex. Acts as a RAB9A/B effector that tethers RAB9-associated late endosomes to the dynein motor for their retrograde transport to the trans-Golgi network (PubMed:34793709)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.