Membrane Transporter-Related Diseases

Diseases, pharmacogenomics, and membrane transporters

Membrane Transporter-Related Diseases:

The List:

Transporter Symbols/Names Relevant Diseases
4F2HC, SLC3A2 Lysinuria
ABC-1, ABC1 Tangiers disease
ABC7, hABC7 X-linked sideroblastic anemia
ABCR Stargardt disease, Fundus flavimaculatus
AE1, SLC4A1 elliptocytosis, ovalocytosis, hemolytic anemia, spherocytosis, renal tubular acidosis
AE2, SLC4A2 congenital chloroidorrhea
AE3, SLC4A3 congenital chloroidorrhea
ALDR Adrenoleukodystrophy
ANK ankylosis (calcification); arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction
Aralar-like, SLC25A13 adult-onset type II citrullinemia
ATBo, SLC1A5, hATBo, ASCT2, AAAT Neurodegeneration
BCMP1, UCP4, SLC25A14 HHH
CFTR Cystic fibrosis
CTR-1, SLC31A1 Menkes/Wilsons disease
CTR-2, SLC31A2 Menkes/Wilsons disease, X-linked hypophosphatemia
DTD, SLC26A2 chondrodysplasias/ diadtrophic dysplasia
EAAT1, SLC1A3, GLAST1 Neurodegeneration, Amyotrophic lateral sclerosis
EAAT2, SLC1A2, GLT-1 Neurodegeneration, Dicarboxylic aminoaciduria
EAAT3, SLC1A1, EAAC1 Neurodegeneration
EAAT4, SLC1A6 Neurodegeneration
EAAT5, SLC1A7 Neurodegeneration
FIC1 Progressive familial intrahepatic cholestasis
FOLT, SLC19A1, RFC1 Folate malabsorption/megaloblastic anemia
GLUT1, SLC2A1 low CNS glucose causing seizures, Fanconi-Bickel syndrome, Glycogen storage disease type Id, Non-insulin-dependent diabetes mellitus, defect in glucose transport across the blood-brain barrier
GLUT2, SLC2A2 low CNS glucose causing seizures, Fanconi-Bickel syndrome, Glycogen storage disease type Id, Non-insulin-dependent diabetes mellitus (NIDDM)
GLUT3, SLC2A3 low CNS glucose causing seizures, Fanconi-Bickel syndrome, Glycogen storage disease type Id, Non-insulin-dependent diabetes mellitus (NIDDM)
GLUT4, SLC2A4 low CNS glucose causing seizures, Fanconi-Bickel syndrome, Glycogen storage disease type Id, Non-insulin-dependent diabetes mellitus (NIDDM)
GLUT5, SLC2A5 Isolated fructose malabsorption
HET anemia, genetic hemochromatosis
HTT, SLC6A4 anxiety-related traits
LAT-2, SLC7A6 Lysinuric protein intolerance
LAT-3, SLC7A7 lysinuric protein intolerance
MDR1 human cancers
MDR2, MDR3 Familia intrahepatic cholestasis
MRP1 human cancers
NBC Down’s syndrome
NBC1, SLC4A4 renal tubular acidosis
NBC3, SLC4A7 congenital hypothyroidism
NCCT, SLC12A3, TSC Gitelman syndrome
NHE2, SLC9A2 Microvillus inclusion disease
NHE3, SLC9A3/3P Microvillus inclusion disease
NIS, SLC5A5 congenital hypothyroidism
NKCC1, SLC12A2 gitelman’s syndrome
NKCC2, SLC12A1 Bartter’s syndrome
NORTR DiGeorge syndrome, velocardiofacial syndrome
NRAMP2, DCT1, SLC11A2, attention-deficit disorder
NTCP2, ISBT, SLC10A2 primary bile acid malabsorption (PBAM)
OCTN2, SLC22A5 systemic carnitine deficiency (progressive cardiomyopathy, skeletal myopathy, hypoglycaemia, hyperammonaemia, sudden infant death syndrome)
ORNT1, SLC25A15 HHH
PMP34, SLC25A17 Graves’ disease
rBAT, SLC3A1, D2 cystinuria
SATT, SLC1A4, ASCT1 Neurodegeneration
SBC2 hypocitraturia
SERT various mental disorders
SGLT1, SLC5A1 renal glucosuria / glucose-galactose malabsorption
SGLT2, SLC5A2 renal glucosuria
SMVT, SLC5A6 anxiety-related traits, depression
TAP1 juvenile onset psriasis
y+L Type I ystinuria

Links by transporters:

B(o,+)-type amino acid transporter 1

Canalicular multispecific organic anion transporter 1

Excitatory amino acid transporter 3

GDP-fucose transporter 1

Mitochondrial ornithine transporter1

Organic cation/carnitine transporter 2

Retinal-specific ATP- binding cassette transporter

Sodium-and chloride-dependent creatine transporter 1

Solute carrier family 2, facilitated glucose transporter, member 1

Solute carrier family 4, sodium bicarbonate cotransporter, member 4

Sulfate transporter

Thiamine transporter 1

Urea Transporter, Erythrocyte

Y+L amino acid transporter 1

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