DNAJC13 Chromosome 3
DnaJ heat shock protein family (Hsp40) member C13
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What This Gene Does
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]
Gene Info
Gene Group
"DNAJ (HSP40) heat shock proteins|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
3q22.1
Ensembl
ENSG00000138246
Associated Conditions (4)
Parkinson disease
late-onset
Essential tremor
Parkinson disease 21
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145242123 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS387907571 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease, late-onset, Essential tremor |