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DNAJB9

Synonyms
ERdj4, MDG-1, MDG1, MST049, MSTP049
External resources
Summary
This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,369
Likely benign
206
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DNAJB9 gene.

Phenotype class
Patients in 3billion (%)

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