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Am J Physiol Renal Physiol 2007 Feb 01;2922:F533-44. doi: 10.1152/ajprenal.00325.2006.
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Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin.

Malakauskas SM , Quan H , Fields TA , McCall SJ , Yu MJ , Kourany WM , Frey CW , Le TH .

Defects in renal proximal tubule transport manifest in a number of human diseases. Although variable in clinical presentation, disorders such as Hartnup disease, Dent's disease, and Fanconi syndrome are characterized by wasting of solutes commonly recovered by the proximal tubule. One common feature of these disorders is aminoaciduria. There are distinct classes of amino acid transporters located in the apical and basal membranes of the proximal tubules that reabsorb >95% of filtered amino acids, yet few details are known about their regulation. We present our physiological characterization of a mouse line with targeted deletion of the gene collectrin that is highly expressed in the kidney. Collectrin-deficient mice display a reduced urinary concentrating capacity due to enhanced solute clearance resulting from profound aminoaciduria. The aminoaciduria is generalized, characterized by loss of nearly every amino acid, and results in marked crystalluria. Furthermore, in the kidney, collectrin-deficient mice have decreased plasma membrane populations of amino acid transporter subtypes B(0)AT1, rBAT, and b(0,+)AT, as well as altered cellular distribution of EAAC1. Our data suggest that collectrin is a novel mediator of renal amino acid transport and may provide further insight into the pathogenesis of a number of human disease correlates.

PubMed ID: 16985211
Article link: Am J Physiol Renal Physiol

Species referenced: Xenopus
Genes referenced: cltrn slc1a1 slc3a1 slc6a19
GO keywords: renal water transport [+]

Disease Ontology terms: Dent disease [+]
References :
Kleta, Collecting evidence: the case of collectrin (Tmem27) and amino acid transport. 2007, Pubmed