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SLC transporter disorders
Stable Identifier
R-HSA-5619102
DOI
10.3180/r-hsa-5619102.1
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
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The solute-carrier gene (SLC) superfamily encodes membrane-bound transporters comprising 55 gene families with at least 362 putatively functional protein-coding genes. The gene products include passive transporters, symporters and antiporters and are located in all cellular and organelle membranes. Curated here is a list of SLCs, where mutations within them can result in disease (Hediger et al. 2013).
Literature References
PubMed ID
Title
Journal
Year
23506860
The ABCs of membrane transporters in health and disease (SLC series): introduction
Hediger, MA
,
Clémençon, B
,
Bruford, EA
,
Burrier, RE
Mol. Aspects Med.
2013
Participants
Events
Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)
(Homo sapiens)
Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)
(Homo sapiens)
Defective CP causes aceruloplasminemia (ACERULOP)
(Homo sapiens)
Defective GCK causes maturity-onset diabetes of the young 2 (MODY2)
(Homo sapiens)
Defective HK1 causes hexokinase deficiency (HK deficiency)
(Homo sapiens)
Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)
(Homo sapiens)
Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)
(Homo sapiens)
Defective SLC12A1 causes Bartter syndrome 1 (BS1)
(Homo sapiens)
Defective SLC12A3 causes Gitelman syndrome (GS)
(Homo sapiens)
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
(Homo sapiens)
Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)
(Homo sapiens)
Defective SLC17A5 causes Salla disease (SD) and ISSD
(Homo sapiens)
Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)
(Homo sapiens)
Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)
(Homo sapiens)
Defective SLC1A3 causes episodic ataxia 6 (EA6)
(Homo sapiens)
Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)
(Homo sapiens)
Defective SLC22A12 causes renal hypouricemia 1 (RHUC1)
(Homo sapiens)
Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1)
(Homo sapiens)
Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
(Homo sapiens)
Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)
(Homo sapiens)
Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
(Homo sapiens)
Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
(Homo sapiens)
Defective SLC26A2 causes chondrodysplasias
(Homo sapiens)
Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)
(Homo sapiens)
Defective SLC26A4 causes Pendred syndrome (PDS)
(Homo sapiens)
Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS)
(Homo sapiens)
Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)
(Homo sapiens)
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
(Homo sapiens)
Defective SLC2A10 causes arterial tortuosity syndrome (ATS)
(Homo sapiens)
Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
(Homo sapiens)
Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)
(Homo sapiens)
Defective SLC33A1 causes spastic paraplegia 42 (SPG42)
(Homo sapiens)
Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)
(Homo sapiens)
Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)
(Homo sapiens)
Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
(Homo sapiens)
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
(Homo sapiens)
Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
(Homo sapiens)
Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M)
(Homo sapiens)
Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS)
(Homo sapiens)
Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C)
(Homo sapiens)
Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)
(Homo sapiens)
Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ)
(Homo sapiens)
Defective SLC3A1 causes cystinuria (CSNU)
(Homo sapiens)
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)
(Homo sapiens)
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)
(Homo sapiens)
Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
(Homo sapiens)
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)
(Homo sapiens)
Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
(Homo sapiens)
Defective SLC5A2 causes renal glucosuria (GLYS1)
(Homo sapiens)
Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)
(Homo sapiens)
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
(Homo sapiens)
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
(Homo sapiens)
Variant SLC6A14 may confer susceptibility towards obesity
(Homo sapiens)
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
(Homo sapiens)
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
(Homo sapiens)
Defective SLC6A19 causes Hartnup disorder (HND)
(Homo sapiens)
Defective SLC6A19 causes Hartnup disorder (HND)
(Homo sapiens)
Defective SLC6A2 causes orthostatic intolerance (OI)
(Homo sapiens)
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
(Homo sapiens)
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
(Homo sapiens)
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
(Homo sapiens)
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
(Homo sapiens)
Defective SLC6A5 causes hyperekplexia 3 (HKPX3)
(Homo sapiens)
Defective SLC7A7 causes lysinuric protein intolerance (LPI)
(Homo sapiens)
Defective SLC7A9 causes cystinuria (CSNU)
(Homo sapiens)
Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)
(Homo sapiens)
Defective SLC9A9 causes autism 16 (AUTS16)
(Homo sapiens)
Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)
(Homo sapiens)
Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)
(Homo sapiens)
Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2)
(Homo sapiens)
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
(Homo sapiens)
Participates
as an event of
Disorders of transmembrane transporters (Homo sapiens)
Disease
Name
Identifier
Synonyms
disease
DOID:4
Authored
Jassal, B (2014-08-22)
Reviewed
Broer, S (2015-08-04)
Created
Jassal, B (2014-08-22)
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