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GENATLAS PHENOTYPE
last update : 20-04-2010
Symbol CSNU1
Location 2p21
Name cystinuria-lysinuria type I
Other name(s) cystinuria
Corresponding gene SLC3A1
Other symbol(s) CLUR1, CSNU
Main clinical features
  • disorder of amino acid transport, due to the defective transport of cystine and dibasic amino acids through the epithelial cells of the renal tubule and intestinal tract (cystine having a low solubility, its precipitation results in the formation of calculi in the urinary tract), which leads to obstruction, infections, and ultimately renal insufficiency
    • Genetic determination autosomal recessive
    Prevalence approximately 1 in 7,000
    Function/system disorder metabolism/membrane transport
    Type disease
    Gene product
    Name Na+ dependent cysteine, dibasic, neutral aminoacid transporter (SLC3A1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)