EPG5 ectopic P-granules 5 autophagy tethering factor
Gene ID: 57724, updated on 2-Nov-2024Gene type: protein coding
Also known as: HEEW1; VICIS; KIAA1632
- See all available tests in GTR for this gene
- Go to complete Gene record for EPG5
- Go to Variation Viewer for EPG5 variants
Summary
This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Vici syndrome | not available |
Genomic context
- Location:
- 18q12.3-q21.1
- Sequence:
- Chromosome: 18; NC_000018.10 (45800581..45967329, complement)
- Total number of exons:
- 46
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EPG5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EPG5 @ LOVD
- 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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