NDE1 gene

nudE neurodevelopment protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

From UniProt:

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.

From NCBI Gene:

  • Lissencephaly 4
  • Microhydranencephaly

From UniProt:

Lissencephaly 4 (LIS4): A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound mental retardation. [MIM:614019]

Microhydranencephaly (MHAC): A severe neurodevelopmental disorder characterized by microcephaly, severe motor and mental retardation, spasticity, and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development. [MIM:605013]

Cytogenetic Location: 16p13.11, which is the short (p) arm of chromosome 16 at position 13.11

Molecular Location: base pairs 15,643,267 to 15,726,353 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16p13.11, which is the short (p) arm of chromosome 16 at position 13.11
  • HOM-TES-87
  • LIS4
  • MHAC
  • NDE
  • NUDE
  • NUDE1