Defective SLC3A1 causes cystinuria (CSNU)

Stable Identifier
R-HSA-5619113
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
Defective SLC3A1 causes cystinuria (CSNU)
Click the image above or here to open this pathway in the Pathway Browser
Neutral and basic amino acid transport protein rBAT (SLC3A1) and b(0,+)-type amino acid transporter 1 (SLC7A9) are linked by a disulfide bridge to form system b(0,+)-like activity in the high affinity transport of neutral and dibasic amino acids and cystine. The SLC7A9:SLC3A1 heterodimer mediates the electrogenic exchange of extracellular amino acids such as L-arginine (L-Arg) and L-lysine (L-lys) and cystine (CySS-, the oxidised form of L-cysteine) for intracellular neutral amino acids such as L-leucine (L-Leu). These solute carriers are mainly expressed in the kidney and small intestine where they remove dibasic amino acids and cystine from the renal tubular and intestinal lumen respectively (Schweikhard & Ziegler 2012). Defects in SLC3A1 (or SLC7A9) can cause cystinuria (CSNU; MIM:220100), an autosomal recessive disorder characterised by impaired epithelial cell transport of cystine and dibasic amino acids in the proximal renal tubule and GI tract. The build-up and low solubility of cystine causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis and in severe cases, renal failure (Palacin et al. 2001, Mattoo & Goldfarb 2008, Fotiadis et al. 2013, Saravakos et al. 2014). Cystinuria is subcategorized as type A (mutations on SLC3A1) and type B (mutations on SLC7A9).
Literature References
PubMed ID Title Journal Year
24246330 Cystinuria: current diagnosis and management

Kokkinou, V, Saravakos, P, Giannatos, E

Urology 2014
23506863 The SLC3 and SLC7 families of amino acid transporters

Palacin, M, Fotiadis, D, Kanai, Y

Mol. Aspects Med. 2013
11396607 The amino acid transport system b(o,+) and cystinuria

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

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

Schweikhard, ES, Ziegler, CM

Curr Top Membr 2012
18359399 Cystinuria

Goldfarb, DS, Mattoo, A

Semin. Nephrol. 2008
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
cystinuria DOID:9266
Authored
Jassal, B  (2014-08-22)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-08-22)
Cite Us!