The protein defective in cystinosis is responsible for
The protein defective in cystinosis is Cystinosin CTNS (lysosomal efflux). Clinical features:- Renal Fanconi's syndrome & Renal failure Rickets Photophobia Hypotonia Do not confuse cystinuria and cystinosis. Cystinosis is a lysosomal storage disease due defective transpo of cystine out of lysosomes.