RGD Reference Report - Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. - Rat Genome Database

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Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption.

Authors: Simon, DB  Lu, Y  Choate, KA  Velazquez, H  Al-Sabban, E  Praga, M  Casari, G  Bettinelli, A  Colussi, G  Rodriguez-Soriano, J  McCredie, D  Milford, D  Sanjad, S  Lifton, RP 
Citation: Simon DB, etal., Science. 1999 Jul 2;285(5424):103-6.
RGD ID: 1599615
Pubmed: PMID:10390358   (View Abstract at PubMed)

Epithelia permit selective and regulated flux from apical to basolateral surfaces by transcellular passage through cells or paracellular flux between cells. Tight junctions constitute the barrier to paracellular conductance; however, little is known about the specific molecules that mediate paracellular permeabilities. Renal magnesium ion (Mg2+) resorption occurs predominantly through a paracellular conductance in the thick ascending limb of Henle (TAL). Here, positional cloning has identified a human gene, paracellin-1 (PCLN-1), mutations in which cause renal Mg2+ wasting. PCLN-1 is located in tight junctions of the TAL and is related to the claudin family of tight junction proteins. These findings provide insight into Mg2+ homeostasis, demonstrate the role of a tight junction protein in human disease, and identify an essential component of a selective paracellular conductance.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CLDN16Humanrenal tubular transport disease susceptibilityIAGP DNA:mutation: more ...RGD 
Cldn16Ratrenal tubular transport disease susceptibilityISOCLDN16 (Homo sapiens)DNA:mutation: more ...RGD 
Cldn16Mouserenal tubular transport disease susceptibilityISOCLDN16 (Homo sapiens)DNA:mutation: more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cldn16  (claudin 16)

Genes (Mus musculus)
Cldn16  (claudin 16)

Genes (Homo sapiens)
CLDN16  (claudin 16)


Additional Information