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Human diseases caused by or associated with transporters

TCDiseaseProtein NameDescriptionAccession #OMIM
1.A.1.15.2Benign Neonatal EpilepsyKCNQ26 TMS voltage-gated K+ channel, KCNQ2 (mutations cause benign familial neonatal convulsions (BNFC; epilepsy)) (forms homotetramers or heterotetramers with KCNQ3) (Soldovieri et al., 2006)O43526121200
1.A.1.15.3Benign Neonatal Epilepsy 2KCNQ36 TMS voltage-gated K+ channel, KCNQ3 (mutations cause benign familial neonatal convulsions (BNFC; epilepsy)) (forms homotetramers or heterotetramers with KCNQ2) (Soldovieri et al., 2006)O43525121201
1.A.1.15.4Autosomal Dominant Nonsydromic Sensorineural DeafnessKCNQ46 TMS cell volume sensitive, voltage-gated K+ channel, KCNQ4 (mutations cause DFNA2, an autosomal dominant form of progressive hearing loss) (forms homomers or heteromers with KCNQ3) (localized to the basal membrane of cochlear outer hair cells and in several nuclei of the central auditory pathway in the brainstem). Four splice variants form heterotetramers; each subunit has different voltage and calmodulin-sensitivities (Xu et al., 2007)P56696600101
1.A.1.15.6Jervell and Lange-Nielsen SyndromeKCNQ1K+ voltage-gated channel, KQT-like subfamily; Kv7.1; KCNQ1 (regulated by KCNE peptides which affect voltage sensor equilibrium; Rocheleau and Kobertz, 2007). Almost 300 mutations of KCNQ1 have been identified in patients, and most are linked to the long QT syndrome (Peroz et al., 2008).P51787220400
1.A.1.15.6Long QT SyndromeKCNQ1K+ voltage-gated channel, KQT-like subfamily; Kv7.1; KCNQ1 (regulated by KCNE peptides which affect voltage sensor equilibrium; Rocheleau and Kobertz, 2007). Almost 300 mutations of KCNQ1 have been identified in patients, and most are linked to the long QT syndrome (Peroz et al., 2008).P51787192500
2.A.1.1.28HTLV-1 Associated MyelopathyGtr1 aka SLC2A1 aka GLUT1The erythrocyte/brain hexose facilitator,
Gtr1 or Glut1. Also transports D-glucose, dehydroascorbate, and the flavonone, quercetin, via one channel and water via a distinct channel. Sugar transport has been suggested to function via a sliding mechanism involving several sugar binding sites (Cunningham et al., 2006). (Receptor for human T-cell leukemia virus (HTLV)) (Manel et al., 2003). Regulated by stomatin to take up dehydroascorbate (Montel-Hagen et al., 2008)		P11166159580
2.A.1.1.28NeurofibromatosisGtr1 aka SLC2A1 aka GLUT1The erythrocyte/brain hexose facilitator,
Gtr1 or Glut1. Also transports D-glucose, dehydroascorbate, and the flavonone, quercetin, via one channel and water via a distinct channel. Sugar transport has been suggested to function via a sliding mechanism involving several sugar binding sites (Cunningham et al., 2006). (Receptor for human T-cell leukemia virus (HTLV)) (Manel et al., 2003). Regulated by stomatin to take up dehydroascorbate (Montel-Hagen et al., 2008)		P11166162200
2.A.1.4.5Gierke's Disease (Glycogen Storage Disease 1b)G6PU aka GSD1b aka G6PT1 aka G6PTMicrosomal glucose-6-P transporter (glycogen storage disease (GSD1b); Gierke's disease protein) (SLC37A2; in mice, associated with white adipose tissue obesity and expressed at high levels in macrophage) (4 isoforms present in humans)O43826232220
2.A.1.14.10Infantile Sialic Acid Storage DisorderSialinLysosomal sialate transporter (sialate storage disease protein)Q9UGH0269920
2.A.1.14.10Salla DiseaseSialinLysosomal sialate transporter (sialate storage disease protein)Q9UGH0604369
2.A.6.6.1Niemann-Pick Disease Type C1NPC1 aka NPCNiemann-Pick C1 AND C2 disease proteins (together may form a possible lipid/cholesterol exporter from lysosomes to other cellular sites) (Sleat et al., 2004). NPC1 deficiency causes lysosomal retention of cholesterol, sphingolipids, phospholipids, and glycolipids (Infante et al., 2007). NPC1 binds cholesterol, 25-hydroxycholesterol and various oxysterols (Infante et al., 2008).O15118257220
2.A.7.16.1Congenital Disorder of Glycosylation (Leukocyte Adhesion Deficiency)GFT aka FUCT1The GDP fucose transporter (GFT) (defective in human leukocyte adhesion disease II)Q96A29266265
2.A.29.2.42-oxoadipate acidemiaODC aka SLC25A21Mammalian oxodicarboxylate carrier (ODC) (transports 2-oxoadipate and 2-oxoglutarate in an antiport reaction; also transports less well: pimelate, 2-oxopimleate, 2-amino adipate, oxaloacetate, and citrate) (Defects cause 2-oxoadipate acidemia, an inborn error of metabolism)Q9BQT8607571
2.A.29.3.2UPC1 Obesity proteinMitochondrial brown fat uncoupling protein 1 (UCP1) (thermogenin) aka obesity protein (SLC25A7)Mitochondrial brown fat uncoupling protein 1 (UCP1) (thermogenin); obesity protein (SLC25A7)P25874113730
2.A.29.12.1Graves DiseaseSLC25A16 aka GDA aka GDCGrave’s disease carrier (GDC) protein (may transport coenzyme A or a coenzyme A precursor) (SLC25A16 for the human orthologue)Q01888275000
2.A.29.14.2Citrullinemia Type IICMC2 aka SLC25A13 or ARALAR2Mitochondrial Ca2+-activated aspartate/glutamate antiporter carrier with Ca2+-binding EF-hand domain, Citrin (defects in humans cause type II citrullinemia) Q9UJS0603471
2.A.30.5.3Andermann SyndromeKCC3KCl symporter, KCC3 (Andermann Syndrome protein)Q9UHW9218000
2.A.45.2.1Oculocutaneous Albinism Type IIP aka OCA2P-protein; possible tyrosine transporter (also called "melanocyte-specific transporter", "oculocutaneous albinism-related protein" and "pink-eyed dilution gene product") Q04671203200
2.A.48.2.1Thiamine-Responsive Megaloblastic Anemia SyndromeTHT1 aka THTR-1 aka SLC19A2 aka TRMAThiamine uptake transporter-1, THTR-1 (the thiamine-responsive megaloblastic anemia (TRMA) protein) O60779249270
2.A.53.2.1Diastrophic DysplasiaDTD aka SLC26A2 aka DTDSTSulfate/anion transporter (diastrophic dysplasia protein) (SLC26A2) P50443222600
3.A.1.201.2Progressive Familial Intrahepatic Cholestasis 2AB11 aka BSEP aka SPGP aka ABCB11Bile salt export pump, BSEP or SPGP (associated with progressive familial intrahepatic cholestasis-2 (also called ABCB11) and benign recurrent intrahepatic cholestasis (Kagawa et al., 2007)). Unconjugaged bile salts and glycine conjugates > taurine conjugates. O95342601847
3.A.1.201.3Progressive Familial Intrahepatic Cholestasis 3MDR3 aka PGY3 aka ABCB4Short chain fatty acid phosphatidylcholine translocase (phospholipid flippase), MDR3 (associated with progressive familial intrahepatic cholestasis-3). (Narrow drug specificity relative to MDR1. Exports digoxin, paclitaxel, vinblastin and bile acids.) (also called ABCB4)P21439602347
3.A.1.202.1Cystic FibrosisCFTR aka ABCC7Cystic fibrosis transmembrane conductance regulator (CFTR)(also called ABCC7); cyclic AMP-dependent chloride channel; also catalyzes nucleotide (ATP-ADP)-dependent glutathione flux (Kogan et al., 2003) (may also activate inward rectifying K+ channels). The underlying mechanism by which ATP hydrolysis controls channel opening is described by Gadsby et al., (2006). The most common cause of cystic fibrosis (CF) is defective folding of a cystic fibrosis transmembrane conductance regulator (CFTR) mutant lacking Phe508 (DeltaF508). The DeltaF508 protein appears to be trapped in a prefolded state with incomplete packing of the transmembrane segments, a defect that can be repaired by direct interaction with correctors such as corr-4a, VRT-325, and VRT-532 (Wang et al., 2007). CFTR interacts directly with MRP4 (3.A.1.208.7) to control Cl- secretion (Li et al., 2007). It has intrinsic adenylate kinase activity that may be of functional importance (Randak & Welsh, 2007).P13569219700
3.A.1.203.1Zellweger SyndromeABD3 aka PMP70 aka PXMP1 aka ABCD3Peroxysomal long chain fatty acyl (LCFA) transporter associated with Zellweger SyndromeP28288214100
3.A.1.203.3AdrenoleukodystrophyABCD1 aka ALDThe peroxysomal long chain fatty acid (LCFA) half transporter, ABCD1 (ALD, the adrenoleukodystrophy protein)P33897300100
3.A.1.208.2Dubin-Johnson SyndromeMRP2 aka MRP aka cMOAT aka ABCC2 aka cMOAT1 aka cMRPHepatic canalicular conjugate exporter (the Dubin-Johnson Syndrome protein) (transports bilirubin glucuronides; E2 17 β glucuronide, dianionic bile salts such as taurocholate, taurochenodeoxycholate sulfate and taurolithocholate sulfate; reduced glutathione; glutathione conjugates; cysteinyl leukotrienes; arsenic-glutathione complexes and glutathione disulfide; also exports anthracyclines, epipodophyllotosine, Vinca alkaloids, cisplatin, and methotrexate) (also called ABCC2) Q92887237500
3.A.1.208.4Nesidioblastosis of the Pancreas (Persistent Hyperinsulinemic Hypoglycemia of Infancy)ACC8 aka SUR1 aka SUR aka ABCC8SUR1 sulfonylurea receptor; subunit and regulator of α-cell ATP-sensitive K+ channel (TC #1.A.2); determines ATP sensitivity; no inherent transport function known; associated with persistent hyperinsulinemic hypoglycemia of infancy due to focal adenomatous hyperplasia (also called ABCC8). Gain-of-function mutations in the genes encoding the ATP-sensitive potassium (K(ATP)) channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) cause neonatal diabetes mellitus. Because mutant channels are inhibited less strongly by MgATP, this increases K(ATP) currents in pancreatic beta cells, thus reducing insulin secretion and producing diabetes (de Wet et al., 2007).Q09428256450
3.A.1.208.10Pseudoxanthoma ElasticumABCC6 aka MRPb aka MRP6 aka ARAMultidrug (anthracycline) resistance organic anion efflux pump (ABC-C6; MRP6; MOAT-E - the pseudoxanthoma elasticum disease protein) exports glutathione conjugates including lencotriene C4, DNP, and N-ethylmaleimide S-glutathione; also exports anthracyclines, epipodophyllotoxins, cisplatin, and probably exports probenecid, benzbromarone and indomethacin. O95255264800
3.A.1.209.1Bare Lymphocyte Syndrome Type ITAP2 aka ABCB3 aka PSF2 aka RING11 aka Y1MHC heterodimeric peptide exporter (TAP) (from cytoplasm to the endoplasmic reticulum) (TAP1=ABCB2; TAP2=ABCB3) (defects in TAP1 or TAP2 cause immunodeficiency) (TAP1/TAP2 is stabilized by tapasin isoforms 1, 2 and 3) (Raghuraman et al., 2002). TAP1 has 10 TMSs, 4 unique N-terminal TMSs and 6 TMSs that form the translocation pore with N- and C-termini in the cytosol (Schrodt et al., 2006). The TAP2 nucleotide binding site appears to be the main catalytic active site driving transport suggesting asymmetry in the transporter (Perria et al., 2006). Q03519604571
3.A.1.209.1Insulin-Dependent Diabetes MellitusTAP1 aka ABCB2 aka PSF1 aka RING4 aka Y3MHC heterodimeric peptide exporter (TAP) (from cytoplasm to the endoplasmic reticulum) (TAP1=ABCB2; TAP2=ABCB3) (defects in TAP1 or TAP2 cause immunodeficiency) (TAP1/TAP2 is stabilized by tapasin isoforms 1, 2 and 3) (Raghuraman et al., 2002). TAP1 has 10 TMSs, 4 unique N-terminal TMSs and 6 TMSs that form the translocation pore with N- and C-termini in the cytosol (Schrodt et al., 2006). The TAP2 nucleotide binding site appears to be the main catalytic active site driving transport suggesting asymmetry in the transporter (Perria et al., 2006). Q03518222100
3.A.1.210.4Anemia, Sideroblastic, and Spinocerebellar AtaxiaABC7 aka ABCB7ABC7 iron transporter (X-linked sideroblastis anemia protein) (also called ABCB7)O75027301310
3.A.1.211.1Tangier DiseaseABC1 aka ABCA1The cholesterol/phospholipid flippase, ABC1 (called ABCA1 in humans; Tangier disease proteins; 2261 aas; sp: O95477)P41233205400
3.A.1.211.2Stargardt Disease 1RIM aka ABCR aka ABCA4The retinal-specific ABC transporter (RIM protein, ABCR or ABCA4) (Stargardt's disease protein) in the rod outer segment. May flip retinal in the membrane bilayer. P78363248200
3.A.3.2.5Hailey-Hailey DiseasehSPCA1 aka ATC1 aka ATP2C1 aka PMR1L aka KIAA1347The Golgi Ca2+, Mn2+-ATPase, hSPCA1 (efflux) (the Hailey-Hailey disease protein). Involved in responses to golgi stress, apoptosis and midgestational death (Okunade et al., 2007)P98194169600
3.A.3.2.7Darier-White DiseaseATP2A2 aka ATP2B aka SERCA2The sarco/endoplasmic reticulum Ca2+-ATPase, SERCA2b (encoded by the ATPLA2 gene) (Darier's disease protein) (Ahn et al., 2003) (SERCA1 functions as a heat generator in mitochondria of brown adipose tissue; de Meis et al., 2006). Functions as a Ca2+:H+ antiporter (Karjalainen et al., 2007).P16615124200
3.A.3.5.3Wilson's DiseaseAT7B aka ATP7B aka WND aka PWD aka WC1Cu+-, Ag+-ATPase (efflux from the cytosol into the secretory pathway) (Barnes et al., 2005); ATP7B (Wilson's disease protein, α-chain) (continuously expressed in Purkinje neurons). It delivers Cu+ to the ferroxidase, ceruloplasmin, in liver. May also transport Fe2+ (Takeda et al., 2005).P35670277900
3.A.3.5.6Cutis LaxaATP7A aka MNK aka MC1Cu+-ATPase, ATP7A (MNK or Mc1) (efflux from the cytosol into the secretory pathway) (Menkes disease protein, α-chain). Expressed in Purkinje cells early in development and later in Bergmann glia. In melanocytes, it delivers Cu2+ to tyrosinase (Barnes et al., 2005). ATP7A has dual functions: 1) it incorporates copper into copper-dependent enzymes; and 2) it maintains intracellular copper levels by removing excess copper from the cytosol. To accomplish both functions, the protein traffics between different cellular locations, depending on copper levels (Bertini & Rosato, 2007).Q04656304150
3.A.3.5.6Menkes DiseaseATP7A aka MNK aka MC1Cu+-ATPase, ATP7A (MNK or Mc1) (efflux from the cytosol into the secretory pathway) (Menkes disease protein, α-chain). Expressed in Purkinje cells early in development and later in Bergmann glia. In melanocytes, it delivers Cu2+ to tyrosinase (Barnes et al., 2005). ATP7A has dual functions: 1) it incorporates copper into copper-dependent enzymes; and 2) it maintains intracellular copper levels by removing excess copper from the cytosol. To accomplish both functions, the protein traffics between different cellular locations, depending on copper levels (Bertini & Rosato, 2007).Q04656309400