The CLCN5 gene provides instructions for making a protein that transports charged molecules (ions) across cell membranes. Specifically, the CLCN5 protein exchanges negatively charged chloride ions for positively charged hydrogen ions.
The CLCN5 protein is found primarily in structures called proximal tubules in the kidneys. The proximal tubules help to reabsorb protein and other important substances back into the bloodstream. Substances that are not reabsorbed by the kidneys are released into the urine. Thus, the CLCN5 protein helps prevent protein loss in the urine (proteinuria).
Within proximal tubular cells, the CLCN5 protein is found in specialized compartments called endosomes. Endosomes at the proximal tubular cell surface are involved in the reabsorption of proteins. They also help transport proteins and other molecules to their proper locations within the cell. The process of transporting proteins from the outer cell membrane to the inside of the cell is called endocytosis.
By transporting hydrogen ions into endosomes and chloride ions out, the CLCN5 protein helps endosomes maintain the proper acidity level (pH). Endosomal pH levels must be acidic for the proximal tubular cells to function properly.
Other Names
ClC-5; CLC5; Dent disease; DENTS; hCIC-K2; XLRH; XRN
Related Genetics Topics
Identifiers
- NCBI Gene: 1184
- OMIM: 300008
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
