NUP54 nucleoporin 54
Gene ID: 53371, updated on 10-Dec-2024Gene type: protein coding
Also known as: DYT37
- See all available tests in GTR for this gene
- Go to complete Gene record for NUP54
- Go to Variation Viewer for NUP54 variants
Summary
The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Dystonia 37, early-onset, with striatal lesions | not available |
Genomic context
- Location:
- 4q21.1
- Sequence:
- Chromosome: 4; NC_000004.12 (76114664..76148397, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NUP54 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
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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