Paracellin-1: Difference between revisions
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'''<u>Mutation of Paracellin-1</u>''' | '''<u>Mutation of Paracellin-1</u>''' | ||
Recessive mutations in Paracellin-1 leads to hypomagnesaemia in humans. Magnesium movement in the thick ascending limb is controlled by a paracellular pathway which is altered by mutations in Paracellin-1 which therefore leads to less magnesium being reabsorbed. Calcium movement is also disturbed causing | Recessive mutations in Paracellin-1 leads to hypomagnesaemia in humans. Magnesium movement in the thick ascending limb is controlled by a paracellular pathway which is altered by mutations in Paracellin-1 which therefore leads to less magnesium being reabsorbed. Calcium movement is also disturbed causing hypercalciuria and nephrocalcinosis. | ||
<u>'''References'''</u> | |||
Hampson G, Konrad MA, Scoble J. (2008) Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene. BMC nephrology Journal. 9:12. | |||
Ikari A, Ito M, Okude C, Sawada H, Harada H, Degawa M, Sakai H, Takahashi T, Sugatani J, Miwa M. (2008) Claudin-16 is directly phosphorylated by protein kinase A independently of a vasodilator-stimulated phosphoprotein-mediated pathway. Journal of cellular physiology. 214(1):221-9. | |||
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Revision as of 13:40, 14 November 2010
Paracellin-1, also known as Claudin 16, is one of the transmembrane linker proteins of tight junctions and is part of the Claudin family. This protein is found in the thick ascending limb of the Loop of Henle in the Renal Tubule.
Mutation of Paracellin-1
Recessive mutations in Paracellin-1 leads to hypomagnesaemia in humans. Magnesium movement in the thick ascending limb is controlled by a paracellular pathway which is altered by mutations in Paracellin-1 which therefore leads to less magnesium being reabsorbed. Calcium movement is also disturbed causing hypercalciuria and nephrocalcinosis.
References
Hampson G, Konrad MA, Scoble J. (2008) Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene. BMC nephrology Journal. 9:12.
Ikari A, Ito M, Okude C, Sawada H, Harada H, Degawa M, Sakai H, Takahashi T, Sugatani J, Miwa M. (2008) Claudin-16 is directly phosphorylated by protein kinase A independently of a vasodilator-stimulated phosphoprotein-mediated pathway. Journal of cellular physiology. 214(1):221-9.