Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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DNAJ homolog subfamily B member 11

The DNAJB11 gene encodes a chaperon. Mutations cause autosomal dominant polycystic kidney disease type 6.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Polycystic kidney disease 6
DNAJB11

References:

1.

Cornec-Le Gall E et al. (2018) Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.

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2.

Yu M et al. (2000) HEDJ, an Hsp40 co-chaperone localized to the endoplasmic reticulum of human cells.

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3.

Ohtsuka K et al. (2000) Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a proposal for their classification and nomenclature.

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4.

Lau PP et al. (2001) A DnaJ protein, apobec-1-binding protein-2, modulates apolipoprotein B mRNA editing.

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Update: Aug. 14, 2020
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