AlphaFold predicted structure
NDE1 · Q9NXR1

Mean pLDDT
76.9/ 100
Confident
335 residues
Confidence breakdown
- Very high(≥ 90)53%
- Confident(70–90)10%
- Low(50–70)8%
- Very low(< 50)30%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
nudE neurodevelopment protein 1
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalMalformations of cortical development
BIALLELIC, autosomal or pseudoautosomalSevere microcephaly
BIALLELIC, autosomal or pseudoautosomalCerebral vascular malformations
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal+1 more panels — install the extension to see the full list inline on any page.
lissencephaly 4
NDE1-related microhydranencephaly
aortic aneurysm, familial thoracic 4
microlissencephaly
familial thoracic aortic aneurysm and aortic dissection
megacystis-microcolon-intestinal hypoperistalsis syndrome 2
visceral myopathy 2
hydranencephaly
Lissencephaly
lissencephaly spectrum disorders
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
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)
NDE1 · Q9NXR1

Mean pLDDT
76.9/ 100
Confident
335 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0