Gene Symbol | NDE1 |
Entrez Gene ID | 54820 |
Full Name | nudE neurodevelopment protein 1 |
Synonyms | HOM-TES-87,LIS4,MHAC,NDE,NUDE,NUDE1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Lissencephaly 4 (with microcephaly), 614019 (3); ?Microhydranencephaly, 605013 (3) |