CLDN16

CLDN16
Claudin 16
Identifiers
Symbols CLDN16; HOMG3; PCLN1
External IDs OMIM603959 MGI2148742 HomoloGene4799 GeneCards: CLDN16 Gene
RNA expression pattern
PBB GE CLDN16 220332 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 10686 114141
Ensembl ENSG00000113946 ENSMUSG00000038148
UniProt Q9Y5I7 Q14BW2
RefSeq (mRNA) NM_006580 NM_053241.5
RefSeq (protein) NP_006571 NP_444471.1
Location (UCSC) Chr 3:
190.04 – 190.13 Mb
Chr 16:
26.46 – 26.48 Mb
PubMed search [1] [2]

Claudin-16 is a protein that in humans is encoded by the CLDN16 gene.[1][2] It belongs to the group of claudins.

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are composed of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure.[2]

References

  1. ^ 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 (Jul 1999). "Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption". Science 285 (5424): 103–6. doi:10.1126/science.285.5424.103. PMID 10390358. 
  2. ^ a b "Entrez Gene: CLDN16 claudin 16". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10686. 

Further reading


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