The protein defective in cystinosis is responsible for
Correct Answer: Efflux of cysteine from lysosome
Description: 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.
Category:
Biochemistry
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