DNAJC13 DnaJ heat shock protein family (Hsp40) member C13
Gene ID: 23317, updated on 28-Oct-2024Gene type: protein coding
Also known as: RME8; PARK21
- See all available tests in GTR for this gene
- Go to complete Gene record for DNAJC13
- Go to Variation Viewer for DNAJC13 variants
Summary
This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available |
Genomic context
- Location:
- 3q22.1
- Sequence:
- Chromosome: 3; NC_000003.12 (132417502..132539032)
- Total number of exons:
- 57
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DNAJC13 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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