BioPAX pathway converted from "Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria" in the Reactome database.Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuriaDefective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuriaSLC6A18 encodes a neutral amino acid transporter B(0)AT3 which has preference for the amino acid glycine. It is abundantly expressed in the kidney, specifically the S2/3 segments of the kidney proximal tubule (Broer & Gether 2012, Schweikhard & Ziegler 2012). Iminoglycinuria (IG; MIM:242600) or hyperglycinuria (HG; MIM:138500) can arise from defects in SLC36A2, encoding a proton-coupled amino acid transporter 2 (PAT2), a high-affinity cotransporter of glycine and proline. Mutation in SLC6A18 may contribute to both IG and HG (Broer et al. 2008).Authored: Jassal, Bijay, 2014-08-22Reviewed: Broer, Stefan, 2015-08-04Edited: Jassal, Bijay, 2014-08-22Defective SLC6A18 does not transport Gly from extracellular region to cytosolDefective SLC6A18 does not transport Gly from extracellular region to cytosolSLC6A18 encodes a neutral amino acid transporter B(0)AT3 which has preference for the amino acid glycine. It is abundantly expressed in the kidney, specifically the S2/3 segments of the kidney proximal tubule. Iminoglycinuria (IG; MIM:242600) or hyperglycinuria (HG; MIM:138500) can arise from defects in SLC36A2, encoding a proton-coupled amino acid transporter 2 (PAT2), a high-affinity cotransporter of glycine and proline. Mutations in SLC6A18 may contribute to both IG and HG. Although SLC6A18 could not be functionally expressed in heterologous systems, surface expression of mutants G79S and G496R in oocytes was abrogated, suggesting loss of functionality (Broer et al. 2008).Authored: Jassal, Bijay, 2014-12-23Reviewed: Broer, Stefan, 2015-08-04Edited: Jassal, Bijay, 2014-12-23Reactome DB_ID: 2660291extracellular regionGO0005576glycine zwitterion [ChEBI:57305]glycine zwitterionglycineDHMQDGOQFOQNFH-UHFFFAOYSA-NC2H5NO22-azaniumylacetate[NH3+]CC([O-])=OInChI=1S/C2H5NO2/c3-1-2(4)5/h1,3H2,(H,4,5)75.06660Reactomehttp://www.reactome.orgChEBI57305PHYSIOL-LEFT-TO-RIGHTACTIVATIONConverted from EntitySet in ReactomeReactome DB_ID: 5659737plasma membraneGO0005886SLC6A18 mutants [plasma membrane]Converted from EntitySet in Reactome. Each synonym is a name of a PhysicalEntity, and each XREF points to one PhysicalEntitySLC6A18 G79S [plasma membrane]SLC6A18 G496R [plasma membrane]Homo sapiensNCBI Taxonomy9606UniProtQ96N87GO0015171GO molecular functionReactome Database ID Release 759631921Database identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&ID=9631921Reactome Database ID Release 755659755Database identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&ID=5659755ReactomeR-HSA-56597552Reactome stable identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5659755.219033659Pubmed2008Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transportersBroer, StefanBailey, CGKowalczuk, SonjaNg, CynthiaVanslambrouck, Jessica MRodgers, HelenAuray-Blais, ChristianeCavanaugh, JABröer, AngelikaRasko, JEJ. Clin. Invest. 118:3881-92Reactome Database ID Release 755659729Database identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&ID=5659729ReactomeR-HSA-56597291Reactome stable identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5659729.123177982Pubmed2012Amino acid secondary transporters: toward a common transport mechanismSchweikhard, Eva SZiegler, Christine MCurr Top Membr 70:1-28