NDE1

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]

Description

nudE neurodevelopment protein 1

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

16:p13.11 (15643267 - 15726353)

Ensembl ID

ENSG00000072864  (ver. 99.38)

Orthologs

Mouse Nde1: ENSMUSG00000022678

UniProt

Q9NXR1

neXtProt

NX_Q9NXR1

Human splice variants
Mouse splice variants