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ACPHD
Chr 13ARDnaJ heat shock protein family (Hsp40) member C3
Also known as: ACPHD, ERdj6, HP58, P58, P58IPK, PRKRI, p58(IPK)
This protein functions as a DNAJ chaperone family member with tetratricopeptide repeat motifs and inhibits the interferon-induced, dsRNA-activated protein kinase (PKR). Mutations cause autosomal recessive ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, affecting multiple organ systems including the nervous system, auditory system, and pancreatic function.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ACPHD?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ACPHD · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools