| Definition | Protein which, if defective, causes cystinuria (CSNU), an autosomal recessive condition of persistent excessive urinary excretion of cystine and three other dibasic amino acids: lysine, ornithine, and arginine. CSNU arises from impaired reabsorption of these amino acids through the epithelial cells of the renal tubule and gastrointestinal tract. It is characterized by cystine stones in the kidney, ureter and bladder. Three clinical types of cystinuria have been described: cystinuria type-I (CSNU1), type-II (CSNU2) and type-III (CSNU3). |
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