Osmosis video - Cystinosis

Cystinosis is a rare, progressive genetic disorder caused by a mutation in the CTNS gene, which results in the build-up of cystine amino acid in the body. CTNS gene encodes for cystinosin protein, which transports cystine protein out of lysosomes. When it malfunctions, that's when the amino acid accumulates and causes cystinosis. Symptoms include blindness, kidney failure, and muscle weakness.