rs387907571

This is a variant in the DNAJC13 gene that changes a asparagine to an serine.

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ClinVar annotation

Pathogenic

2 submitters3 publications

Essential tremor; Parkinson disease 21 (PARK21); Parkinson disease, late-onset (PD)

About DNAJC13

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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