Synonyms:ENTREZ:54820, HGNC:17619, HOM-TES-87, LIS4, MHAC, MIM:609449, NDE, NDE1, NM_001143979, NM_017668, NP_001137451, NP_060138, NUDE, NUDE1, XM_005255396, XM_006720897, XM_006720900, XM_011522553, XM_017023349, XM_017023350, XM_017023351, XM_017023352, XM_017023353, XM_017023354, XM_017023355, XM_017023356, XM_017023357, XP_005255453, XP_006720960, XP_006720963, XP_011520855, XP_016878838, XP_016878839, XP_016878840, XP_016878841, XP_016878842, XP_016878843, XP_016878844, XP_016878845, XP_016878846, nudE neurodevelopment protein 1
Id:ENSG00000275911
Description:nudE neurodevelopment protein 1 [Source:HGNC Symbol;Acc:HGNC:17619]
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]
