Human diseases caused by or associated with transporters
| TC | Disease | Protein Name | Description | Accession # | OMIM |
| 1.A.1.15.2 | Benign Neonatal Epilepsy | KCNQ2 | 6 TMS voltage-gated K+ channel, KCNQ2 (mutations cause benign familial neonatal convulsions (BNFC; epilepsy)) (forms homotetramers or heterotetramers with KCNQ3) | O43526 | 121200 |
| 1.A.1.15.3 | Benign Neonatal Epilepsy 2 | KCNQ3 | 6 TMS voltage-gated K+ channel, KCNQ3 (mutations cause benign familial neonatal convulsions (BNFC; epilepsy)) (forms homotetramers or heterotetramers with KCNQ2) | O43525 | 121201 |
| 1.A.1.15.4 | Autosomal Dominant Nonsydromic Sensorineural Deafness | KCNQ4 | 6 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) | P56696 | 600101 |
| 2.A.1.1.28 | HTLV-1 Associated Myelopathy | Gtr1 aka SLC2A1 aka GLUT1 | The erythrocyte/brain hexose facilitator, Gtr1 or Glut1. Also transports dehydro- ascorbate and water via distinct channels. (Receptor for human T-cell leukemia virus (HTLV) (Manel et al., 2003)) | P11166 | 159580 |
| 2.A.1.1.28 | Neurofibromatosis | Gtr1 aka SLC2A1 aka GLUT1 | The erythrocyte/brain hexose facilitator, Gtr1 or Glut1. Also transports dehydro- ascorbate and water via distinct channels. (Receptor for human T-cell leukemia virus (HTLV) (Manel et al., 2003)) | P11166 | 162200 |
| 2.A.1.4.5 | Gierke's Disease (Glycogen Storage Disease 1b) | G6PU aka GSD1b aka G6PT1 aka G6PT | Microsomal glucose-6-P transporter (glycogen storage disease (GSD1b); Gierke's disease protein) | O43826 | 232220 |
| 2.A.1.14.10 | Infantile Sialic Acid Storage Disorder | Sialin | Lysosomal sialate transporter (sialate storage disease protein) | Q9UGH0 | 269920 |
| 2.A.1.14.10 | Salla Disease | Sialin | Lysosomal sialate transporter (sialate storage disease protein) | Q9UGH0 | 604369 |
| 2.A.6.6.1 | Niemann-Pick Disease Type C1 | NPC1 aka NPC | Niemann-Pick C1 AND C2 disease proteins (together to form a possible lipid/cholesterol exporter from lysosomes to other cellular sites) (Sleat et al., 2004). | O15118 | 257220 |
| 2.A.7.16.1 | Congenital Disorder of Glycosylation (Leukocyte Adhesion Deficiency) | GFT aka FUCT1 | The GDP fucose transporter (GFT) (defective in human leukocyte adhesion disease II) | Q96A29 | 266265 |
| 2.A.29.2.4 | 2-oxoadipate acidemia | ODC aka SLC25A21 | Mammalian 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) | Q9BQT8 | 607571 |
| 2.A.29.12.1 | Graves Disease | SLC25A16 aka GDA aka GDC | Grave’s disease carrier (GDC) protein (may transport coenzyme A or a coenzyme A precursor) (SLC25A16 for the human orthologue) | Q01888 | 275000 |
| 2.A.29.14.2 | Citrullinemia Type II | CMC2 aka SLC25A13 or ARALAR2 | Mitochondrial Ca2+-activated aspartate/glutamate antiporter carrier with Ca2+-binding EF-hand domain, Citrin (defects in humans cause type II citrullinemia) | Q9UJS0 | 603471 |
| 2.A.30.5.3 | Andermann Syndrome | KCC3 | KCl symporter, KCC3 (Andermann Syndrome protein) | Q9UHW9 | 218000 |
| 2.A.45.2.1 | Oculocutaneous Albinism Type II | P aka OCA2 | P-protein; possible tyrosine transporter (also called "melanocyte-specific transporter", "oculocutaneous albinism-related protein" and "pink-eyed dilution gene product") | Q04671 | 203200 |
| 2.A.48.2.1 | Thiamine-Responsive Megaloblastic Anemia Syndrome | THT1 aka THTR-1 aka SLC19A2 aka TRMA | Thiamine uptake transporter-1, THTR-1 (the thiamine-responsive megaloblastic anemia (TRMA) protein) | O60779 | 249270 |
| 2.A.53.2.1 | Diastrophic Dysplasia | DTD aka SLC26A2 aka DTDST | Sulfate/anion transporter (diastrophic dysplasia protein) (SLC26A2) | P50443 | 222600 |
| 3.A.1.201.2 | Progressive Familial Intrahepatic Cholestasis 2 | AB11 aka BSEP aka SPGP aka ABCB11 | Bile salt export pump, BSEP or SPGP (associated with progressive familial intrahepatic cholestasis-2) (also called ABCB11) | O95342 | 601847 |
| 3.A.1.201.3 | Progressive Familial Intrahepatic Cholestasis 3 | MDR3 aka PGY3 aka ABCB4 | Short chain fatty acid phosphatidylcholine translocase, MDR3 (associated with progressive familial intrahepatic cholestasis-3). (Narrow drug specificity relative to MDR1. Exports digoxin, paclitaxel, vinblastin and bile acids.) (also called ABCB4) | P21439 | 602347 |
| 3.A.1.202.1 | Cystic Fibrosis | CFTR aka ABCC7 | Cystic 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) | P13569 | 219700 |
| 3.A.1.203.1 | Zellweger Syndrome | ABD3 aka PMP70 aka PXMP1 aka ABCD3 | Peroxysomal long chain fatty acyl (LCFA) transporter associated with Zellweger Syndrome | P28288 | 214100 |
| 3.A.1.203.3 | Adrenoleukodystrophy | ABCD1 aka ALD | Long chain fatty acid (LCFA) transporter, ABCD1 (ALD, the adrenoleukodystrophy protein) | P33897 | 300100 |
| 3.A.1.208.2 | Dubin-Johnson Syndrome | MRP2 aka MRP aka cMOAT aka ABCC2 aka cMOAT1 aka cMRP | Hepatic canalicular conjugate exporter (the Dubin-Johnson Syndrome protein) (transports bilirubin glucuronides; dianionic bile salts such as taurocholate, taurochenodeoxycholate sulfate and taurolithocholate sulfate; glutathione; glutathione conjugates; cysteinyl leukotrienes; arsenic-glutathione complexes and glutathione disulfide) (also called ABCC2) | Q92887 | 237500 |
| 3.A.1.208.4 | Nesidioblastosis of the Pancreas (Persistent Hyperinsulinemic Hypoglycemia of Infancy) | ACC8 aka SUR1 aka SUR aka ABCC8 | SUR1 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) | Q09428 | 256450 |
| 3.A.1.208.10 | Pseudoxanthoma Elasticum | ABCC6 aka MRPb aka MRP6 aka ARA | Multidrug (anthracycline) resistance organic anion efflux pump (ABC-C6; MRP6; MOAT-E - the pseudoxanthoma elasticum disease protein) exports glutathione conjugates including lencotriene C4 and N-ethylmaleimide S-glutathione and probably exports probenecid, benzbromarone and indomethacin. | O95255 | 264800 |
| 3.A.1.209.1 | Bare Lymphocyte Syndrome Type I | TAP2 aka ABCB3 aka PSF2 aka RING11 aka Y1 | MHC 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) | Q03519 | 604571 |
| 3.A.1.209.1 | Insulin-Dependent Diabetes Mellitus | TAP1 aka ABCB2 aka PSF1 aka RING4 aka Y3 | MHC 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) | Q03518 | 222100 |
| 3.A.1.210.4 | Anemia, Sideroblastic, and Spinocerebellar Ataxia | ABC7 aka ABCB7 | ABC7 iron transporter (X-linked sideroblastis anemia protein) (also called ABCB7) | O75027 | 301310 |
| 3.A.1.211.1 | Tangier Disease | ABC1 aka ABCA1 | The cholesterol/phospholipid flippase, ABC1 (called ABCA1 in humans; Tangier disease proteins; 2261 aas; sp: O95477) | P41233 | 205400 |
| 3.A.1.211.2 | Stargardt Disease 1 | RIM aka ABCR aka ABCA4 | The 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. | P78363 | 248200 |
| 3.A.3.2.5 | Hailey-Hailey Disease | hSPCA1 aka ATC1 aka ATP2C1 aka PMR1L aka KIAA1347 | The Golgi Ca2+, Mn2+-ATPase, hSPCA1 (efflux) (the Hailey-Hailey disease protein) | P98194 | 169600 |
| 3.A.3.2.7 | Darier-White Disease | ATP2A2 aka ATP2B aka SERCA2 | The sarco/endoplasmic reticulum Ca2+-ATPase, SERCA2b (encoded by the ATPLA2 gene) (Darier's disease protein) (Ahn et al., 2003) | P16615 | 124200 |
| 3.A.3.5.3 | Wilson's Disease | AT7B aka ATP7B aka WND aka PWD aka WC1 | Cu+-, Ag+-ATPase (efflux); ATP7B (Wilson's disease protein) | P35670 | 277900 |
| 3.A.3.5.6 | Cutis Laxa | ATP7A aka MNK aka MC1 | Cu+-ATPase, ATP7A (MNK or Mc1) (efflux) (Menkes disease protein, α-chain) | Q04656 | 304150 |
| 3.A.3.5.6 | Menkes Disease | ATP7A aka MNK aka MC1 | Cu+-ATPase, ATP7A (MNK or Mc1) (efflux) (Menkes disease protein, α-chain) | Q04656 | 309400 |