NDE1 nudE neurodevelopment protein 1
Gene ID: 54820, updated on 2-Nov-2024Gene type: protein coding
Also known as: NDE; LIS4; MHAC; NUDE; NUDE1; HOM-TES-87
- See all available tests in GTR for this gene
- Go to complete Gene record for NDE1
- Go to Variation Viewer for NDE1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Lissencephaly 4 | See labs |
| NDE1-related microhydranencephaly | See labs |
Genomic context
- Location:
- 16p13.11
- Sequence:
- Chromosome: 16; NC_000016.10 (15643382..15726353)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NDE1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NDE1 @ LOVD
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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