CTNS : cystinosin, lysosomal cystine transporter
Description
The CTNS gene provides instructions for making a protein called cystinosin. Cystinosin is a transporter protein that moves cystine, a type of amino acid, out of cells. Cystine is a naturally occurring substance that is produced when protein is broken down. If the CTNS gene is mutated, cystinosin is not made correctly or not made at all. This leads to a buildup of cystine inside cells, particularly in the lysosomes, which are compartments within cells that break down waste products. The accumulation of cystine damages cells and tissues, leading to a rare but serious disease called cystinosis.
Associated Diseases
Did you know?
Cystinosis is a rare genetic disorder that affects approximately 1 in 100,000 individuals.
