Nuclear distribution protein nudE homolog 1 is a protein that in humans is encoded by the NDE1 gene.[5][6][7]

Clinical significance

Mutations in both copies of NDE1 cause microlissencephaly type 4.[8]

References

  1. ^ a b c ENSG00000275911 GRCh38: Ensembl release 89: ENSG00000072864, ENSG00000275911Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022678Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Kitagawa M, Umezu M, Aoki J, Koizumi H, Arai H, Inoue K (Sep 2000). "Direct association of LIS1, the lissencephaly gene product, with a mammalian homologue of a fungal nuclear distribution protein, rNUDE". FEBS Lett. 479 (1–2): 57–62. doi:10.1016/S0014-5793(00)01856-1. PMID 10940388.
  6. ^ Meyer G, Perez-Garcia CG, Gleeson JG (Nov 2002). "Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement". Cereb Cortex. 12 (12): 1225–36. doi:10.1093/cercor/12.12.1225. PMID 12427674.
  7. ^ "Entrez Gene: NDE1 nudE nuclear distribution gene E homolog 1 (A. nidulans)".
  8. ^ "OMIM Entry - # 614019 - LISSENCEPHALY 4; LIS4". omim.org. Retrieved 2019-12-10.

Further reading

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