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Detail Data SLC7A9
Basic description
Gene Name | SLC7A9 |
---|---|
Protein Name | b(0,+)-type amino acid transporter 1 (b(0,+)AT1) (Glycoprotein-associated amino acid transporter b0,+AT1) (Solute carrier family 7 member 9) |
Family | SLC7 |
Category | Transport of inorganic cations/anions and amino acids/oligopeptides |
Reaction name | - |
Reaction | - |
[Overview]
10 20 30 40 50 60 70 80 90 100 110 120 130 140 150 160 170 180 190 200 210 220 230 240 250 260 270 280 290 300 310 320 330 340 350 360 370 380 390 400 410 420 430 440 450 460 470 480 MGDTGLRKRR EDEKSIQSQE PKTTSLQKEL GLISGISIIV GTIIGSGIFV SPKSVLSNTE AVGPCLIIWA ACGVLATLGA LCFAELGTMI TKSGGEYPYL MEAYGPIPAY LFSWASLIVI KPTSFAIICL SFSEYVCAPF YVGCKPPQIV VKCLAAAAIL FISTVNSLSV RLGSYVQNIF TAAKLVIVAI IIISGLVLLA QGNTKNFDNS FEGAQLSVGA ISLAFYNGLW AYDGWNQLNY ITEELRNPYR NLPLAIIIGI PLVTACYILM NVSYFTVMTA TELLQSQAVA VTFGDRVLYP ASWIVPLFVA FSTIGAANGT CFTAGRLIYV AGREGHMLKV LSYISVRRLT PAPAIIFYGI IATIYIIPGD INSLVNYFSF AAWLFYGLTI LGLIVMRFTR KELERPIKVP VVIPVLMTLI SVFLVLAPII SKPTWEYLYC VLFILSGLLF YFLFVHYKFG WAQKISKPIT MHLQMLMEVV PPEEDPE CCCCCCCCCC CCHHHHCCCC CCCCCCCHHC CHHHHHHHHH HHHHCCCHHH CCHHHHHCCC CHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCCCHHHHH HHHHCCHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCCCCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCCCCCCCC CCCCCCCHHH HHHHHHHHHH HHCCCHHHHH HCHHHHCCCC CHHHHHHHHH HHHHHHHHHH HHHHHCCCCH HHHHHCCCHH HHHCCCCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCCCHH HEECCCCCCC CCHHHHHHHH HHHHHHCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCCCCCCCC CHHHHHHHHH HHHHHHHHHC CCCHHHHHHH HHHHHHHHHH HHHHHHHHCH HHHHHCHHHH HHHHHHHHCC CCCCCCC
[Overview]
SLC7A1 -----------------------------------------MGCKVL-LNIGQQMLRRKVVD-CSRE--------ETRLSRCLNTFDLVALGVGSTLGAGVYVLAGAVAREN---AGPAIVISFLIAALASVLAGLCYGEFGARVPK-TGSAYLYSYVTVGELWAFITGWNLILSYIIGTSSVARAWSATFDELIGRPIGEFSRTHM-TLNAPGVLAE-NPD---------IFAVIIILILTGLLTLGVKESAMVNKIFTCINVLVLGFIMVSG---FVKGSVKNWQLTEEDFGNTSGRLCLNNDTKEGKP-GVGGFMPFGFSG--------VLSGAATCFYAFVGFDCIATTGEEVKNPQKAIPVGIVASLLICFIAYFGVSAALTLMMPYFCLDNNSPLPDAFKHVGWEGAKYAVAVGSLCALSASLLGSMFPMPRVIYAMAEDGLLFKFLANVNDRTKTPIIATLASGAVAAVMAFLFDLKDLVDLMSIGTLLAYSLVAACVLVLRYQ-PEQPNL---------------------------------------------VYQMASTSDELDPADQNELASTN------------------DSQLGFLPEAEMFSLKTILSP-------------KNMEPSKISGLIVNISTSLIAVLIITFCIVTVLGREALTKGALWAVFLLAGSALLCAVVT----------GVIWRQPESKTKLSFKVPFLPVLPILSIFVNVYLMMQLDQGTWVRFAVW-------------MLIGFIIYFGYGLWHSEE------------------------------------------------------------------------ASLDADQA-------RTPDG-------------------NLDQCK--------- SLC7A10 ----MAGH--------------------TQ------------------QPSGRGNPR-PAPSPSPVPGTVPGASERVALKKEIGLLSACTIIIGNIIGSGIFISPKGVLEHS-GSVGLALFV-WVLGGGVTALGSLCYAELGVAIPK-SGGDYAYVTEIFGGLAGFLLLWSAVLIMYPTSLAVI---SMTFSNYVLQPV--------------------FPNCIPPTTASRVLSMACLMLLTWVNSSSVRWATRIQDMFTGGKLLALSLIIGVGLLQIFQGHFEELRP------------------------------SNAFAFWMTPSVGHLALAFLQGSFAFSGWNFLNYVTEEMVDARKNLPRAIFISIPLVTFVYTFTNIAYFTAMSPQELLSSNAVAVTFGEKLLGYFSWVMPVSVALSTFGGINGYLFTYSRLCFSGAREGHLPSLLAMIHVRHCTPIPALLVCCGATAVIMLVGDTYTLINYVSFINYLCYGVTILGLLLLRWRRPALH-----------------------------------------------------------------------------------------------------------RP-------------------------------------------------------------------------------------------------IKVNL--LIPVAYLVFWAFLLV---------FSFISEPM-VCGVGVIIILTGVPIFFLGVFW--RSKPKCVHRLTESMTHWGQELCFVVYP--------QDAP----------------------------------EEEENGPCP---PSLLPATDK-----------------PSKPQ------------ SLC7A11 M---VRKP-------------VVSTISKGG------------------YLQGNVNGRLPSLGNKEPPGQ-----EKVQLKRKVTLLRGVSIIIGTIIGAGIFISPKGVLQNT-GSVGMSLTI-WTVCGVLSLFGALSYAELGTTIKK-SGGHYTYILEVFGPLPAFVRVWVELLIIRPAATAVI---SLAFGRYILEPF--------------------FIQCEIPELAIKLITAVGITVVMVLNSMSVSWSARIQIFLTFCKLTAILIIIVPGVMQLIKGQTQNFK--------------------------------DAFSG-RDSSITRLPLAFYYGMYAYAGWFYLNFVTEEVENPEKTIPLAICISMAIVTIGYVLTNVAYFTTINAEELLLSNAVAVTFSERLLGNFSLAVPIFVALSCFGSMNGGVFAVSRLFYVASREGHLPEILSMIHVRKHTPLPAVIVLHPLTMIMLFSGDLDSLLNFLSFARWLFIGLAVAGLIYLRYKCPDMH-----------------------------------------------------------------------------------------------------------RP-------------------------------------------------------------------------------------------------FKVPL--FIPALFSFTCLFMVA---------LSLYSDPF-STGIGFVITLTGVPAYYLFIIW--DKKPRWFRIMSEKITRTLQIILEVV----------------------------------------------------------------PEEDKL--------------------------------- SLC7A13 MD------------------------------------------------RG----------------------EKIQLKRVFGYWWGTSFLLINIIGAGIFVSPKGVLAYSCMNVGVSLCV-WAGCAILAMTSTLCSAEISISFPC-SGAQYYFLKRYFGSTVAFLNLWTSLFL----GSGVVAGQALLLAEYSIQPF--------------------FPSCSVPKLPKKCLALAMLWIVGILTSRGVKEVTWLQIASSVLKVSILSFISLTGVVFLIRGKKENVER-----------------------------FQNAFDA-ELPDISHLIQAIFQGYFAYSGGACFTLIAGELKKPRTTIPKCIFTALPLVTVVYLLVNISYLTVLTPREILSSDAVAITWADRAFPSLAWIMPFAISTSLFSNLLISIFKSSRPIYLASQEGQLPLLFNTLN-SHSSPFTAVLLLVTLGSLAIILTSLIDLINYIFFTGSLWSILLMIGILRRRYQEPNLS-----------------------------------------------------------------------------------------------------------IP-------------------------------------------------------------------------------------------------YKVFL--SFPLATIVIDVGLVV---------IPLVKSPNVHYVYVLLLVLSGLLFYIPLIHF--KIRLAWF----EKMTCYLQLLFNICLPDVS-----EE------------------------------------------------------------------------------------------- SLC7A14 ----MSGFFT-------------------------SLDPRRVQWGAAWYAMHSRILRTKPVE-SMLEGTGTTTAHGTKLAQVLTTVDLISLGVGSCVGTGMYVVSGLVAKEM---AGPGVIVSFIIAAVASILSGVCYAEFGVRVPKTTGSAYTYSYVTVGEFVAFFIGWNLILEYLIGTAAGASALSSMFDSLANHTISRWMADSVGTLNGLGKGEESYPD---------LLALLIAVIVTIIVALGVKNSIGFNNVLNVLNLAVWVFIMIAGL-FFING--KYW--------------------------AEGQFLPHGWSG--------VLQGAATCFYAFIGFDIIATTGEEAKNPNTSIPYAITASLVICLTAYVSVSVILTLMVPYYTIDTESPLMEMFVAHGFYAAKFVVAIGSVAGLTVSLLGSLFPMPRVIYAMAGDGLLFRFLAHVSSYTETPVVACIVSGFLAALLALLVSLRDLIEMMSIGTLLAYTLVSVCVLLLRYQ-PESD-IDGFVKFLSEEHTKKKEGILADCEKEACSPVSEGDEFSGPATNTCGAKNLPSLGDNEMLIGKSDKSTYNVNHPNYGTVDMTTGIEADESENIYL-----IKLKKLIGPHYYTMRIRLGLPGKMDRPTAATGHTVTICVLLLFILMFIFCSFIIFGSDYISEQSWWAILLVV----------LMVLLISTLVFVILQQPENPKKLPYMAPCLPFVPAFAMLVNIYLMLKLSTITWIRFAVW-------------CFVGLLIYFGYGIWNSTLEISAREEALHQSTYQ----RYDVDDPFSV----EEGFSYATEGESQEDWGGPTEDKGFYYQQMSDAKANGRTSSKAKSKS-------KHKQN-------SEALIAND----ELDYSPE-------- SLC7A2 MKIETSGYNSDKLICRGFIGTPAPPVCDSKFLLSPSSDVRMIPCRAA-LTFARCLIRRKIVTLDSLE--------DTKLCRCLSTMDLIALGVGSTLGAGVYVLAGEVAKAD---SGPSIVVSFLIAALASVMAGLCYAEFGARVPK-TGSAYLYTYVTVGELWAFITGWNLILSYVIGTSSVARAWSGTFDELLSKQIGQFLRTYF-RMNYTG-LAE-YPD---------FFAVCLILLLAGLLSFGVKESAWVNKVFTAVNILVLLFVMVAG---FVKGNVANWKISEEFLKNISASAREPPSENGTSIYGAGGFMPYGFTG--------TLAGAATCFYAFVGFDCIATTGEEVRNPQKAIPIGIVTSLLVCFMAYFGVSAALTLMMPYYLLDEKSPLPVAFEYVGWGPAKYVVAAGSLCALSTSLLGSMFPLPRILFAMARDGLLFRFLARVSKR-QSPVAATLTAGVISALMAFLFDLKALVDMMSIGTLMAYSLVAACVLILRYQ-PGLS------------------------------------------------YDQPKCSPEKDGLGSSPRVTSK-----------------SESQVTML-QRQGFSMRTLFCP--------------SLLPTQQSASLVSFLVGFLAFLVLGLSVLTTYGVHAITRLEAWSLALLA----------LFLVLFVAIVLTIWRQPQNQQKVAFMVPFLPFLPAFSILVNIYLMVQLSADTWVRFSIW-------------MAIGFLIYFSYGIRHSLEGH---------------------------------------------------------------------LRDENNEED-------AYPDNVHAAAEEKSAIQANDHHPRNLSSPFIFHEKTSEF SLC7A3 -----------------------------------------MPWQAF-RRFGQKLVRRRTLE-SGMA--------ETRLARCLSTLDLVALGVGSTLGAGVYVLAGEVAKDK---AGPSIVICFLVAALSSVLAGLCYAEFGARVPR-SGSAYLYSYVTVGELWAFTTGWNLILSYVIGTASVARAWSSAFDNLIGNHISKTLQGSI-ALHVPHVLAE-YPD---------FFALGLVLLLTGLLALGASESALVTKVFTGVNLLVLGFVMISG---FVKGDVHNWKLTEEDYELAMAEL---NDTYSLGPLGSGGFVPFGFEG--------ILRGAATCFYAFVGFDCIATTGEEAQNPQRSIPMGIVISLSVCFLAYFAVSSALTLMMPYYQLQPESPLPEAFLYIGWAPARYVVAVGSLCALSTSLLGSMFPMPRVIYAMAEDGLLFRVLARIHTGTRTPIIATVVSGIIAAFMAFLFKLTDLVDLMSIGTLLAYSLVSICVLILRYQ-PDQE---------------------------------------------------TKTGEEVEL--QEEAITT---------------------------ESEKLTLWGLFFP-------------LNSIPTPLSGQIVYVCSSLLAVLLTALCLVL----------AQWSVPLLSGDLLWTAVVVLLLLLIIGIIVVIWRQPQSSTPLHFKVPALPLLPLMSIFVNIYLMMQMTAGTWARFGVW-------------MLIGFAIYFGYGIQHSLEEI---------------------------------------------------------------------KSNQPSRKS-------RAKTV-------------------DLDPGTLYVHSV--- SLC7A4 -------------------------------------MARGLPTIASLARLCQKLNRLKPLEDSTME---------TSLRRCLSTLDLTLLGVGGMVGSGLYVLTGAVAKEV---AGPAVLLSFGVAAVASLLAALCYAEFGARVPR-TGSAYLFTYVSMGELWAFLIGWNVLLEYIIGGAAVARAWSGYLDSMFSHSIRNFTETHVGSWQVPL-LGH-YPD---------FLAAGIILLASAFVSCGARVSSWLNHTFSAISLLVILFIVILG---FILAQPHNWSA------------------------DEGGFAPFGFSG--------VMAGTASCFYAFVGFDVIAASSEEAQNPRRSVPLAIAISLAIAAGAYILVSTVLTLMVPWHSLDPDSALADAFYQRGYRWAGFIVAAGSICAMNTVLLSLLFSLPRIVYAMAADGLFFQVFAHVHPRTQVPVAGTLAFGLLTAFLALLLDLESLVQFLSLGTLLAYTFVATSIIVLRFQ-KSSP------------------------------PSSPGPASPGPLT-----KQQSSFSDHLQLVGTVHASVPE---PG--------------------------ELKPALRPY------------LGFLDGYSPGAVVTWALGVMLASAITIGCVLVFGNSTL-HLPHWGYILLL---LLTSVMFLLSLLVLGA-----HQQQYREDL-FQIPMVPLIPALSIVLNICLMLKLSYLTWVRFSIW-------------LLMGLAVYFGYGIRHSKENQ--RELPGLNSTH------YVVFPRGSL----EETV----------------------------------QAMQPPSQA-------PAQDP------------------GHME------------ SLC7A5 MA--GAGPKRRAL--------AAPAAEEKE------------------EAREKMLAA-KSADGSAPAGEGEG----VTLQRNITLLNGVAIIVGTIIGSGIFVTPTGVLKEA-GSPGLALVV-WAACGVFSIVGALCYAELGTTISK-SGGDYAYMLEVYGSLPAFLKLWIELLIIRPSSQYIV---ALVFATYLLKPL--------------------FPTCPVPEEAAKLVACLCVLLLTAVNCYSVKAATRVQDAFAAAKLLALALIILLGFVQIGKGDVSNLDP------------------------------NFSFEG-TKLDVGNIVLALYSGLFAYGGWNYLNFVTEEMINPYRNLPLAIIISLPIVTLVYVLTNLAYFTTLSTEQMLSSEAVAVDFGNYHLGVMSWIIPVFVGLSCFGSVNGSLFTSSRLFFVGSREGHLPSILSMIHPQLLTPVPSLVFTCVMTLLYAFSKDIFSVINFFSFFNWLCVALAIIGMIWLRHRKPELE-----------------------------------------------------------------------------------------------------------RP-------------------------------------------------------------------------------------------------IKVNL--ALPVFFILACLFLIA---------VSFWKTPV-ECGIGFTIILSGLPVYFFGVWW--KNKPKWLLQGIFSTTVLCQKLMQVV-P--------QET------------------------------------------------------------------------------------------ SLC7A6 ME--AREPGRPTPTY-----HLVPNT-----------------------SQSQVEE-----DVSSPPQRSSET---MQLKKEISLLNGVSLVVGNMIGSGIFVSPKGVLVHT-ASYGMSLIV-WAIGGLFSVVGALCYAELGTTITK-SGASYAYILEAFGGFIAFIRLWVSLLVVEPTGQAII---AITFANYIIQPS--------------------FPSCDPPYLACRLLAAACICLLTFVNCAYVKWGTRVQDTFTYAKVVALIAIIVMGLVKLCQGHSEHFQ--------------------------------DAFEG-SSWDMGNLSLALYSALFSYSGWDTLNFVTEEIKNPERNLPLAIGISMPIVTLIYILTNVAYYTVLNISDVLSSDAVAVTFADQTFGMFSWTIPIAVALSCFGGLNASIFASSRLFFVGSREGHLPDLLSMIHIERFTPIPALLFNCTMALIYLIVEDVFQLINYFSFSYWFFVGLSVVGQLYLRWKEPKRP-----------------------------------------------------------------------------------------------------------RP-------------------------------------------------------------------------------------------------LKLSV--FFPIVFCICSVFLVI---------VPLFTDTI-NSLIGIGIALSGVPFYFMGVYLPESRRPLFIRNVLAAITRGTQQLCFCVLTELDV----AEEK----------------------------------KDERKTD------------------------------------------------ SLC7A7 ---------------------MVDSTEYEV------------------ASQPEVETS-PLGDGASP---GPEQ---VKLKKEISLLNGVCLIVGNMIGSGIFVSPKGVLIYS-ASFGLSLVI-WAVGGLFSVFGALCYAELGTTIKK-SGASYAYILEAFGGFLAFIRLWTSLLIIEPTSQAII---AITFANYMVQPL--------------------FPSCFAPYAASRLLAAACICLLTFINCAYVKWGTLVQDIFTYAKVLALIAVIVAGIVRLGQGASTHFE--------------------------------NSFEG-SSFAVGDIALALYSALFSYSGWDTLNYVTEEIKNPERNLPLSIGISMPIVTIIYILTNVAYYTVLDMRDILASDAVAVTFADQIFGIFNWIIPLSVALSCFGGLNASIVAASRLFFVGSREGHLPDAICMIHVERFTPVPSLLFNGIMALIYLCVEDIFQLINYYSFSYWFFVGLSIVGQLYLRWKEPDRP-----------------------------------------------------------------------------------------------------------RP-------------------------------------------------------------------------------------------------LKLSV--FFPIVFCLCTIFLVA---------VPLYSDTI-NSLIGIAIALSGLPFYFLIIRVPEHKRPLYLRRIVGSATRYLQVLCMSVAAEMDL----EDGG----------------------------------EMPKQRD---------PKSN----------------------------------- SLC7A8 ME-EGARHRNNT---------------EKK------------------HPGG------GESDASPEAGSGGGG---VALKKEIGLVSACGIIVGNIIGSGIFVSPKGVLENA-GSVGLALIV-WIVTGFITVVGALCYAELGVTIPK-SGGDYSYVKDIFGGLAGFLRLWIAVLVIYPTNQAVI---ALTFSNYVLQPL--------------------FPTCFPPESGLRLLAAICLLLLTWVNCSSVRWATRVQDIFTAGKLLALALIIIMGIVQICKGEYFWLEP------------------------------KNAFENFQEPDIGLVALAFLQGSFAYGGWNFLNYVTEELVDPYKNLPRAIFISIPLVTFVYVFANVAYVTAMSPQELLASNAVAVTFGEKLLGVMAWIMPISVALSTFGGVNGSLFTSSRLFFAGAREGHLPSVLAMIHVKRCTPIPALLFTCISTLLMLVTSDMYTLINYVGFINYLFYGVTVAGQIVLRWKKPDIP-----------------------------------------------------------------------------------------------------------RP-------------------------------------------------------------------------------------------------IKINL--LFPIIYLLFWAFLLV---------FSLWSEPV-VCGIGLAIMLTGVPVYFLGVYW--QHKPKCFSDFIELLTLVSQKMCVVVYPEVERGSGTEEAN----------------------------------EDMEEQQQPMYQPT--PTKDKDV---------------AGQPQP----------- SLC7A9 --------------------------------------------------MGDTGLRKRREDEKSIQSQEPKT---TSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNT-EAVGPCLII-WAACGVLATLGALCFAELGTMITK-SGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAII---CLSFSEYVCAPF--------------------YVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFD--------------------------------NSFEG-AQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELE-----------------------------------------------------------------------------------------------------------RP-------------------------------------------------------------------------------------------------IKVPV--VIPVLMTLISVFLVL---------APIISKPTWEYLYCVLFILSGLLFYFLFVHY----KFGWAQKISKPITMHLQMLMEVVPPE-------ED----------------------------------------------------PE-------------------------------------
Variant
check | gene name | residue number | Reference Amino Acid / Variant Amino Acid | minor allele frequency | rs number |
---|---|---|---|---|---|
SLC7A9 | 59 | T/M | 0.000218771 | rs146154087 | |
SLC7A9 | 105 | G/R | 0.00027487 | rs121908480 | |
SLC7A9 | 123 | T/M | 0.000194952 | rs79987078 | |
SLC7A9 | 142 | V/A | 0.305932 | rs12150889 | |
SLC7A9 | 176 | V/I | 0.000620426 | rs138744722 | |
SLC7A9 | 182 | A/T | 0.00262488 | rs79389353 | |
SLC7A9 | 183 | A/T | 0.000174999 | rs201766636 | |
SLC7A9 | 214 | A/T | 0.000612594 | rs753115478 | |
SLC7A9 | 223 | L/M | 0.294484 | rs1007160 | |
SLC7A9 | 232 | Y/C | 0.000107396 | rs121908487 | |
SLC7A9 | 261 | P/L | 0.000111424 | rs121908486 | |
SLC7A9 | 277 | V/M | 0.000613052 | rs147344717 | |
SLC7A9 | 330 | V/M | 0.000139265 | rs201618022 | |
SLC7A9 | 346 | V/I | 0.000127277 | rs780778962 | |
SLC7A9 | 399 | T/R | 0.000103415 | rs143927415 | |
SLC7A9 | 400 | R/K | 0.000202856 | rs202069562 | |
SLC7A9 | 457 | Y/H | 0.000111342 | rs138086959 | |
SLC7A9 | 468 | P/L | 0.00316921 | rs80283711 | |
SLC7A9 | 482 | P/S | 0.000842983 | rs140516386 |
Phylogenetic tree
Pathway
Priority | Gene Name | Reactome (Gene) | Reactome (Pathway) |
---|---|---|---|
main | SLC7A9 | SLC7A9 [plasma membrane] | Amino acid transport across the plasma membrane |
SLC7A9 | SLC7A9 [plasma membrane] | Basigin interactions |
Disease
Gene Name | Reactome (Gene) | Reactome (Pathway) |
---|---|---|
SLC7A9 | SLC7A9 [plasma membrane] | Defective SLC3A1 causes cystinuria (CSNU) |
SLC7A9 | SLC7A9 Y232C [plasma membrane] | Defective SLC7A9 causes cystinuria (CSNU) |
SLC7A9 | SLC7A9 R333W [plasma membrane] | Defective SLC7A9 causes cystinuria (CSNU) |
SLC7A9 | SLC7A9 V170M [plasma membrane] | Defective SLC7A9 causes cystinuria (CSNU) |
SLC7A9 | SLC7A9 G105R [plasma membrane] | Defective SLC7A9 causes cystinuria (CSNU) |