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 post-mitotic 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.
Lissencephaly 4 with microcephaly
LIS4
A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Microhydranencephaly
MHAC
A severe neurodevelopmental disorder characterized by microcephaly, severe motor and intellectual disability, spasticity, and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development.
None
The disease is caused by variants affecting the gene represented in this entry.
Phosphorylated in mitosis. Phosphorylated in vitro by CDC2. Phosphorylation at Thr-246 is essential for the G2/M transition (By similarity).
Belongs to the nudE family.
Expressed in the neuroepithelium throughout the developing brain, including the cerebral cortex and cerebellum.
NUDE, Nuclear distribution protein nudE homolog 1, NudE
Proteins
38808Da
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