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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

CLDN19  -  claudin 19

Homo sapiens

Synonyms: Claudin-19
 
 
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Disease relevance of CLDN19

  • We have mapped a new locus for recessive renal magnesium loss on chromosome 1p34.2 and have identified mutations in CLDN19, a member of the claudin multigene family, in patients affected by hypomagnesemia, renal failure, and severe ocular abnormalities [1].
  • The identification of CLDN19 mutations in patients with chronic renal failure and severe visual impairment supports the fundamental role of claudin-19 for normal renal tubular function and undisturbed organization and development of the retina [1].
 

High impact information on CLDN19

References

  1. Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement. Konrad, M., Schaller, A., Seelow, D., Pandey, A.V., Waldegger, S., Lesslauer, A., Vitzthum, H., Suzuki, Y., Luk, J.M., Becker, C., Schlingmann, K.P., Schmid, M., Rodriguez-Soriano, J., Ariceta, G., Cano, F., Enriquez, R., Juppner, H., Bakkaloglu, S.A., Hediger, M.A., Gallati, S., Neuhauss, S.C., Nurnberg, P., Weber, S. Am. J. Hum. Genet. (2006) [Pubmed]
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