NDE1
Sign in to saveAlso known as HOM-TES-87, LIS4, MHAC, NDE, NUDE, NUDE1, nudE neurodevelopment protein 1
Nuclear distribution protein nudE homolog 1 is a protein that in humans is encoded by the NDE1 gene.
Gene data
NDE1- Name
- nudE neurodevelopment protein 1
- Type
- protein-coding
- Position
- 15,643,267–15,734,691 (+)
- Aliases
- HOM-TES-87, LIS4, MHAC, NDE, NUDE, NUDE1
- Ensembl
- ENSG00000275911
- RefSeq RNA
- NM_001143979.2, NM_017668.3, XM_005255396.6, XM_006720897.5, XM_006720900.5
- RefSeq protein
- NP_001137451.1, NP_060138.1, XP_005255453.1, XP_006720960.1, XP_006720963.1
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 cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 32354
- exact match
- identifiers.org/ncbigene/54820
- genomic start
- 15737124
- genomic end
- 15734691
- cytogenetic location
- 16p13.11
Sources (4)
via Wikidata · CC0
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Article
3 sectionsContents
- Clinical significance
- References
- Further reading
Nuclear distribution protein nudE homolog 1 is a protein that in humans is encoded by the NDE1 gene.
== Clinical significance == Mutations in NDE1 can cause severe and often fatal defects in fetal brain development.