Title : Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

Pub. Date : 2002 Oct

PMID : 12234283






3 Functional Relationships(s)
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1 Two responsible genes have been identified so far: Mutations in the SLC3A1 gene encoding the heavy chain rbAT of the renal cystine transport system rbAT/b(0,+)AT cause cystinuria type I, while variants in SLC7A9, the gene of its light chain b(0,+)AT, have been demonstrated in non-type I cystinuria. Cystine solute carrier family 3 member 1 Homo sapiens
2 Two responsible genes have been identified so far: Mutations in the SLC3A1 gene encoding the heavy chain rbAT of the renal cystine transport system rbAT/b(0,+)AT cause cystinuria type I, while variants in SLC7A9, the gene of its light chain b(0,+)AT, have been demonstrated in non-type I cystinuria. Cystine solute carrier family 3 member 1 Homo sapiens
3 Two responsible genes have been identified so far: Mutations in the SLC3A1 gene encoding the heavy chain rbAT of the renal cystine transport system rbAT/b(0,+)AT cause cystinuria type I, while variants in SLC7A9, the gene of its light chain b(0,+)AT, have been demonstrated in non-type I cystinuria. Cystine solute carrier family 3 member 1 Homo sapiens