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Claudin 19

The CLDN19 gene encodes a constituent of tight junctions. Mutations cause the autosomal recessive disease of renal hypomagnesemia with ocular involvement.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 10 days
Specimen type genomic DNA

Related Diseases:

Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement



Luk JM et al. (2004) Sp1 site is crucial for the mouse claudin-19 gene expression in the kidney cells.

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Lee NP et al. (2006) Kidney claudin-19: localization in distal tubules and collecting ducts and dysregulation in polycystic renal disease.

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Konrad M et al. (2006) Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.

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Angelow S et al. (2007) Renal localization and function of the tight junction protein, claudin-19.

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Orphanet article

Orphanet ID 120628 external link

NCBI article

NCBI 149461 external link

OMIM.ORG article

Omim 610036 external link

Wikipedia article

Wikipedia EN (CLDN19) external link
Update: Aug. 14, 2020
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