Cystinuria
cv_term_accession
KW-0199
canonical
uniprot_keyword
KW-0199
canonical
name
Cystinuria
uniprot
synonym
CSNU
uniprot
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).
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords