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What is The protein defective in cystinosis is responsible for and explain in detail?
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.