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