Claudin 19
The CLDN19 gene encodes a constituent of tight junctions. Mutations cause the autosomal recessive disease of renal hypomagnesemia with ocular involvement.
Genetests:
Related Diseases:
References:
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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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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.
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Orphanet article
Orphanet ID 120628
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6. |
NCBI article
NCBI 149461
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7. |
OMIM.ORG article
Omim 610036
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8. |
Wikipedia article
Wikipedia EN (CLDN19)
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Update: Aug. 14, 2020