Disease-gene associations mined from literature

Literature associating CLDN16 and primary hypomagnesemia

CLDN16 [ENSP00000264734]

Paracellin-1; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. Involved in paracellular magnesium reabsorption. Required for a selective paracellular conductance. May form, alone or in partnership with other constituents, an intercellular pore permitting paracellular passage of magnesium and calcium ions down their electrochemical gradients. Alternatively, it could be a sensor of magnesium concentration that could alter paracellular permeability mediated by other factors; Claudins

Synonyms:  CLDN16,  CLDN16p,  hCLDN16,  A0SDD8,  Q9Y5I7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM