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.
Absorption of cysteine from intestine
Absorption of cysteine from renal tubules
Efflux cysteine from endoplasmic reticulum
Efflux of cysteine from lysosome
Methionine and Cysteine details