rs3222398
This variant is located in the DNAJB11 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters2 publicationsAbout DNAJB11
This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone required for the proper folding and assembly of proteins in the ER. The encoded protein contains a highly conserved J domain of about 70 amino acids with a characteristic His-Pro-Asp (HPD) motif and may regulate the activity of binding immunoglobulin protein by stimulating ATPase activity. [provided by RefSeq, Mar 2014]
View all DNAJB11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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