[4] In humans, gene CLCN5 is located on chromosome Xp11.22, and has a 2238-bp coding sequence that consists of 11 exons that span 25 to 30 kb of genomic DNA and encode a 746-amino-acid protein.

These chloride channels have an important role in the control of membrane excitability, transepithelial transport, and possibly cell volume.

[citation needed] As of today, no agreed-upon treatment of Dent's disease is known and no therapy has been formally accepted.

[16] Dent's disease is a genetic disorder caused by mutations in the gene CLCN5, which encodes a kidney-specific voltage-gated chloride channel, a 746-amino-acid protein (CLC-5) with 12 to 13 transmembrane domains.

Because of its rather rare occurrence, Dent's disease is often diagnosed as idiopathic hypercalciuria, i.e., excess calcium in urine with undetermined causes.