Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Claudin 19

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

Genetests:

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
CLDN19

References:

1.

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

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2.

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

external link
3.

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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4.

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

external link
5.

Orphanet article

Orphanet ID 120628 external link
6.

NCBI article

NCBI 149461 external link
7.

OMIM.ORG article

Omim 610036 external link
8.

Wikipedia article

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