CLCN5

• OMIM: 300008
• UniProt: P51795

The proton- chloride exchanger 5 (also: chloride transporter ClC -5 ) is a protein in the cells of animals and fungi. It is found in the cell membrane and within the cell in the membrane of the Golgi apparatus and endosome, where it provides chloride ions from the interior of the respective cell compartment to the outside and simultaneously conveyed in turn into the interior of protons. Thus, the transport protein, for example, responsible for the acidification of the endosome lumen. ClC -5 plays a central role in the reabsorption of proteins in the kidneys by endocytosis.

Rare mutations in CLCN5 gene can result in both shortage and oversupply of ClC -5 function. ClC -5 deficiency can lead to several diseases, which are summarized in the so-called Crohn Dent and accompanied by proteinuria, calcium kidney stones, hypophosphatemia, rickets, and renal failure. The defects that occur in renal reabsorption due to the inability of proximal tubule cells to resume transport proteins megalin and cubilin.

The transport equation is

Except chloride also nitrate, bromide and iodide are accepted as the anion, with the affinity NO3 -> Cl - > Br -> I-.