NDE1
NDE1 (Nuclear Distribution Element 1) is a protein that in humans is encoded by the NDE1 gene. The protein encoded by this gene is highly similar to the product of the NDE1 gene. This protein is expressed in the nervous system and plays an essential role in neuronal migration by regulating the organization and stability of microtubules.
Function[edit | edit source]
The NDE1 gene encodes a protein that interacts with LIS1, the protein product of a gene mutated in lissencephaly, a disorder characterized by abnormal brain development. This protein also interacts with dynein, a motor protein involved in cellular transport, suggesting a role for this protein in neuronal migration, a process governed by microtubule dynamics.
Clinical significance[edit | edit source]
Mutations in the NDE1 gene have been associated with extreme microcephaly, a condition characterized by a significantly smaller than normal brain. In addition, mutations in this gene have been implicated in a form of schizophrenia.
Interactions[edit | edit source]
NDE1 has been shown to interact with:
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
NDE1 Resources | ||
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Contributors: Prab R. Tumpati, MD