DNAJB11
From SNPedia
is a | gene |
is | mentioned by |
ClinVar | DNAJB11 |
GeneCards | DNAJB11 |
Diseases | DNAJB11 |
wikipedia | DNAJB11 |
DNAJB11 | |
gopubmed | DNAJB11 |
EVS | DNAJB11 |
HEFalMp | DNAJB11 |
MyGene2 | DNAJB11 |
23andMe | DNAJB11 |
# SNPs | 2 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs1351138670 | 5 | 186,581,393 | |
rs941713150 | 5 | 186,582,011 |
The DNAJB11 gene on chromosome 3 encodes a soluble glycoprotein of the endoplasmic reticulum.
Certain mutations in the DNAJB11 gene have been reported to lead to an atypical form of autosomal dominant polycystic kidney disease with some characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD).[PMID 29706351]
Reported mutations to date include: