CLCN5 : chloride voltage-gated channel 5
Description
The CLCN5 (chloride voltage-gated channel 5) is a protein-coding gene located on chromosome X.
The CLCN5 gene provides instructions for making a protein called ClC-5. This protein is responsible for transporting charged atoms (ions) across cell membranes, specifically exchanging negatively charged chloride ions for positively charged hydrogen ions (protons). This function makes ClC-5 known as a H+/Cl- exchanger. ClC-5 is primarily found in the kidneys, particularly in proximal tubules, which help reabsorb nutrients, water, and other materials from the bloodstream. Within proximal tubule cells, ClC-5 resides in endosomes, specialized compartments that transport proteins and other molecules throughout the cell. By moving hydrogen ions into endosomes and chloride ions out, ClC-5 helps regulate the pH levels within these compartments, which are crucial for proper proximal tubule function.
CLCN5 is also known as CLC5, CLCK2, ClC-5, DENT1, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2.
Associated Diseases
- Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
- Nephrolithiasis, type I
- Dent disease 1
- Hypophosphatemic rickets, X-linked recessive
- Hereditary hypophosphatemic rickets
- Dent disease
