Within the group of aminoacidurias, several renal amino acid transporters involved in reabsorption might be affected; this absorption takes place in the proximal convoluted tubule (PCT). This pathway presents four of these disorders, which proteins involved in the apical surface and one disorder where the protein is located at the basolateral surface of the renal tubule. One of these disorders, iminoglycinuria, is seen as a benign disease.
This pathway was inspired by Chapter 6 (edition 4) of the book of Blau (ISBN 3642403360 (978-3642403361)).b9ac03c03Potassium ionPotassium ionc03Annotation basis: "The heterodimer formed by SLC3A2 and SLC7A6 or SLC3A2 and SLC7A7 mediates the uptake of dibasic amino acids (PubMed:9829974, PubMed:10903140)." Source: UniProtdisulfide bondecdd56c76f6bc03disulfide bondd56c76f6b"May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule." [https://www.uniprot.org/uniprot/Q07837]b03c03c03c03d37c78a8510588648PubMedLuminal heterodimeric amino acid transporter defective in cystinuria.Mol Biol Cell1999Pfeiffer RLoffing JRossier GBauch CMeier CEggermann TLoffing-Cueni DKühn LCVerrey F9783642403361ISBNPhysician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic DiseasesSpringer2014Nenad BlauCarlo Dionisi ViciK Michael GibsonMarinus Duran7914198PubMedThe neuronal and epithelial human high affinity glutamate transporter. Insights into structure and mechanism of transport.J Biol Chem1994Kanai YStelzner MNussberger SKhawaja SHebert SCSmith CPHediger MAcystinuriaDOID:9266DiseaseHartnup diseaseDOID:1060Diseasecystinuria pathwayPW:0002214Pathway Ontology21123949PubMedLoss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.J Clin Invest2011Bailey CGRyan RMThoeng ADNg CKing KVanslambrouck JMAuray-Blais CVandenberg RJBröer SRasko JEHartnup disease pathwayPW:0001977Pathway Ontologylysinuric protein intolerance pathwayPW:0001871Pathway Ontologyinborn error amino acid transport disorder pathwayPW:0001976Pathway Ontology26690923PubMedCaveolin-1 Sensitivity of Excitatory Amino Acid Transporters EAAT1, EAAT2, EAAT3, and EAAT4.J Membr Biol2016Abousaab AWarsi JElvira BLang F7521911PubMedFunctional comparisons of three glutamate transporter subtypes cloned from human motor cortex.J Neurosci1994Arriza JLFairman WAWadiche JIMurdoch GHKavanaugh MPAmara SG10471498PubMedNon-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.Nat Genet1999Feliubadaló LFont MPurroy JRousaud FEstivill XNunes VGolomb ECentola MAksentijevich IKreiss YGoldman BPras MKastner DLPras EGasparini PBisceglia LBeccia EGallucci Mde Sanctis LPonzone ARizzoni GFZelante LBassi MTGeorge AL JrManzoni MDe Grandi ARiboni MEndsley JKBallabio ABorsani GReig NFernández EEstévez RPineda MTorrents DCamps MLloberas JZorzano APalacín Mdicarboxylic aminoaciduriaDOID:0060650Disease16609684PubMedA novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.Kidney Int2006Shigeta YKanai YChairoungdua AAhmed NSakamoto SMatsuo HKim DKFujimura MAnzai NMizoguchi KUeda TAkakura KIchikawa TIto HEndou H19185582PubMedTissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.Gastroenterology2009Camargo SMSinger DMakrides VHuggel KPos KMWagner CAKuba KDanilczyk USkovby FKleta RPenninger JMVerrey F8857541PubMedFlux coupling in a neuronal glutamate transporter.Nature1996Zerangue NKavanaugh MPiminoglycinuria pathwayPW:0001880Pathway Ontologylysinuric protein intoleranceDOID:0060439Disease