Due to necessary maintenance, Xenbase will be unavailable December 24-30, 2014. We apologize for the inconvenience.

Click on this message to dismiss it.
Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
XB-ART-41353
N Engl J Med. March 25, 2010; 362 (12): 1102-9.

A loss-of-function mutation in NaPi-IIa and renal Fanconi''s syndrome.

Magen D , Berger L , Coady MJ , Ilivitzki A , Militianu D , Tieder M , Selig S , Lapointe JY , Zelikovic I , Skorecki K .


Abstract
We describe two siblings from a consanguineous family with autosomal recessive Fanconi''s syndrome and hypophosphatemic rickets. Genetic analysis revealed a homozygous in-frame duplication of 21 bp in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa, as the causative mutation. Functional studies in Xenopus laevis oocytes and in opossum kidney cells indicated complete loss of function of the mutant NaPi-IIa, resulting from failure of the transporter to reach the plasma membrane. These findings show that disruption of the human NaPi-IIa profoundly impairs overall renal phosphate reabsorption and proximal-tubule function and provide evidence of the critical role of NaPi-IIa in human renal phosphate handling.

PubMed ID: 20335586
Article link: N Engl J Med.
Grant support: MOP-10580 Canadian Institutes of Health Research

Genes referenced:
Antibodies referenced:
Morpholinos referenced:

My Xenbase: [ Log-in / Register ]
version: [3.3.1]


Major funding for Xenbase is provided by the National Institute of Child Health and Human Development, grant P41 HD064556