Defective SLC7A9 causes cystinuria (CSNU)

Stable Identifier
Homo sapiens
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SLC7A9 encodes the b(0,+)-type amino acid transporter 1 BAT1. As a heterodimer with SLC3A1 in the plasma membrane, SLC7A9 mediates the high-affinity, sodium-independent transport of cystine (CySS-, the oxidised form of L-cysteine) and dibasic amino acids in exchange for neutral amino acids and is thought to be responsible for the reabsorption of CySS- and dibasic amino acids in the kidney tubule (Schweikhard & Ziegler 2012). Defects in SLC7A9 (or SLC3A1) can cause cystinuria (CSNU; MIM:220100), an autosomal disorder characterised by impaired renal reabsorption of cystine and dibasic amino acids. The low solubility of cystine causes the formation of calculi in the urinary tract resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure (Palacin et al. 2001, Mattoo & Goldfarb 2008, Fotiadis et al. 2013, Saravakos et al. 2014, Barbosa et al. 2012). Cystinuria is subcategorised as type A (mutations on SLC3A1) and type B (mutations on SLC7A9).

Literature References
PubMed ID Title Journal Year
23506863 The SLC3 and SLC7 families of amino acid transporters

Fotiadis, D, Kanai, Y, Palacin, M

Mol. Aspects Med. 2013
24246330 Cystinuria: current diagnosis and management

Saravakos, P, Kokkinou, V, Giannatos, E

Urology 2014
11396607 The amino acid transport system b(o,+) and cystinuria

Palacin, M, Fernández, E, Chillarón, J, Zorzano, A

Mol. Membr. Biol. 2001
23177982 Amino acid secondary transporters: toward a common transport mechanism

Schweikhard, ES, Ziegler, CM

Curr Top Membr 2012
21255007 Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients

Barbosa, M, Lopes, A, Mota, C, Martins, E, Oliveira, J, Alves, S, De Bonis, P, Mota, Mdo C, Dias, C, Rodrigues-Santos, P, Fortuna, AM, Quelhas, D, Lacerda, L, Bisceglia, L, Cardoso, ML

Clin. Genet. 2012
18359399 Cystinuria

Mattoo, A, Goldfarb, DS

Semin. Nephrol. 2008
Name Identifier Synonyms
cystinuria DOID:9266
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