Table 1. ABC transporters associated with human health and disease.
References cited are from relevant papers in this Special Issue.
| ABC transporter | Disease | References |
|---|---|---|
| ABCA1 | Tangier disease and familial high density lipoprotein (HDL) deficiency; atherosclerosis; Alzheimer's disease | [38] |
| ABCA3 | Neonatal surfactant deficiency and pulmonary fibrosis; congenital cataract | [37] |
| ABCA4 | Stargardt macular degeneration | |
| ABCA7 | Alzheimer's disease | [38] |
| ABCA12 | Harlequin and lamellar ichthyosis | |
| ABCB1/transporter associated with antigen processing (Tap)2; ABCB2/Tap1 | Immune deficiency; arthritis risk | |
| ABCB4/MDR2 | PFIC3; other types of cholestasis | [39] |
| ABCB7 | Sideroblastic amaemia and ataxia | [26] |
| ABCB11/bile salt export pump (BSEP) | PFIC2; intrahepatic cholestasis of pregnancy; neonatal respiratory distress syndrome | [39] |
| ABCC2/MRP2 | Dubin–Johnson syndrome | |
| ABCC5/MRP5 | Inherited hypertrichosis | |
| ABCC6/MRP6 | Pseudoxanthoma elasticum | |
| ABCC7/CFTR | CF | [30,31] |
| ABCC8/SUR1 | Diabetes | [35] |
| ABCC9/SUR2 | Diabetes | [35] |
| ABCD1/adrenoleukodystrophy protein (ALDP) | X-linked adrenoleukodystrophy | [23,45] |
| X-linked adrenomyeloneuropathy | ||
| ABCD3/peroxisome membrane protein (PMP70) | Hepatosplenomegaly; liver disease | [23,45] |
| ABCD4/PMP69 | Inborn error of vitamin B12 metabolism | [23] |
| ABCG2/breast cancer resistance protein (BCRP) | Gout and hyperuricaemia | |
| ABCG5; ABCG8 | Sitosterolemia; coronary heart disease; gallstone disease | |
| ABCB1/P-gp; ABCC1/MRP1, ABCG2/BCRP | Multi-drug resistance | [12,44,45] |
| ABCC2-6 | Drug transport |