Monocarboxylate transporter 1

SLC16A1

Identifiers

Aliases

SLC16A1, HHF7, MCT, MCT1, MCT1D, solute carrier family 16 member 1

External IDs

OMIM: 600682; MGI: 106013; HomoloGene: 20662; GeneCards: SLC16A1; OMA:SLC16A1 - orthologs

Gene location (Human)

Chr.	Chromosome 1 (human)^[1]

Band	1p13.2	Start	112,911,847 bp^[1]
Band	1p13.2	End	112,957,593 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 3 (mouse)^[2]

Band	3\|3 F2.2	Start	104,545,984 bp^[2]
Band	3\|3 F2.2	End	104,565,778 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

smooth muscle tissue

left ventricle

endometrium

rectum

placenta

duodenum

skeletal muscle tissue

stromal cell of endometrium

myometrium

gastrocnemius muscle

Top expressed in

retinal pigment epithelium

optic nerve

primitive streak

left colon

atrioventricular valve

atrium

right ventricle

mucous cell of stomach

intercostal muscle

somite

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	protein homodimerization activity monocarboxylic acid transmembrane transporter activity mevalonate transmembrane transporter activity organic cyclic compound binding symporter activity lactate transmembrane transporter activity
Cellular component	integral component of membrane centrosome membrane plasma membrane integral component of plasma membrane mitochondrion extracellular exosome cell junction intracellular membrane-bounded organelle synapse
Biological process	monocarboxylic acid transport glucose homeostasis regulation of insulin secretion lipid metabolism behavioral response to nutrient cellular response to organic cyclic compound lactate transmembrane transport pyruvate metabolic process response to food mevalonate transport leukocyte migration transmembrane transport plasma membrane lactate transport centrosome cycle transport
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


6566


20501

Ensembl


ENSG00000155380 ENSG00000281917


ENSMUSG00000032902

UniProt


P53985 Q5T8R3


P53986

RefSeq (mRNA)


NM_001166496 NM_003051


NM_009196

RefSeq (protein)


NP_001159968 NP_003042


NP_033222

Location (UCSC)

Chr 1: 112.91 – 112.96 Mb

Chr 3: 104.55 – 104.57 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Monocarboxylate transporter 1 is a ubiquitous protein that in humans is encoded by the SLC16A1 gene (also known as MCT1).^[5]^[6]^[7] It is a proton coupled monocarboxylate transporter.

Biochemistry

Detailed kinetic analysis of monocarboxylate transport in erythrocytes revealed that MCT1 operates through an ordered mechanism. MCT1 has a substrate binding site open to the extracellular matrix which binds a proton first followed by the lactate anion. The protein then undergoes a conformational change to a new ‘closed’’ conformation that exposes both the proton and lactate to the opposite surface of the membrane where they are released, lactate first and then the proton. For net transport of lactic acid, the rate-limiting step is the return of MCT1 without bound substrate to the open conformation. For this reason, exchange of one monocarboxylate inside the cell with another outside is considerably faster than net transport of a monocarboxylate across the membrane.

MCT1 can be upregulated by PPAR-α, Nrf2, and AMPK.^[8]

Animal studies

Overexpression of MCT1 has been shown to increase the efficacy of an anti-cancer drug currently undergoing clinical trials called 3-bromopyruvate in breast cancer cells.^[9]

Clinical significance

Most cases of alveolar soft part sarcoma show PAS(+), diastase-resistant (PAS-D (+)) intracytoplasmic crystals which contain CD147 and monocarboxylate transporter 1 (MCT1).^[10] Overexpression of MCT1 in pancreatic beta cells leads to hyperinsulinism during exercise.^[11]

Hyperinsulinemic hypoglycemia, familial, 7 (HHF7) is an autosomal dominant disease on the SLC16A1/MCT gene on chromosome 1p13.2. It causes hyperinsulinemic hypoglycemia, where hyperinsulinism is exercise-induced.^[12]

Monocarboxylate transporter 1 deficiency (MCTD1) is an autosomal dominant and recessive disease on the SLC16A1/MCT1 gene on chromosome 1p13.2. It causes poor feeding and vomiting, intellectual disability, ketotic hypoglycemia, ketoacidosis, ketonuria, with episodes brought on by fasting or infection.^[13]

Erythrocyte lactate transporter defect (formerly, myopathy due to lactate transport defect) is an autosomal dominant disease on the SLC16A1/MCT gene on chromosome 1p.13.2. It causes exercise-induced muscle cramping, stiffness, and fatigue (exercise intolerance); symptoms may also be induced by heat. Although symptoms present in the muscles, muscle biopsy and EMG are normal. Decreased erythrocyte (red blood cell) lactate clearance, decreased lactate clearance from muscle after exercise, and elevated serum creatine kinase.^[14]

References

^ ^a ^b ^c ENSG00000281917 GRCh38: Ensembl release 89: ENSG00000155380, ENSG00000281917 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032902 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Garcia CK, Goldstein JL, Pathak RK, Anderson RG, Brown MS (Mar 1994). "Molecular characterization of a membrane transporter for lactate, pyruvate, and other monocarboxylates: implications for the Cori cycle". Cell. 76 (5): 865–73. doi:10.1016/0092-8674(94)90361-1. PMID 8124722. S2CID 22137883.
^ Garcia CK, Li X, Luna J, Francke U (Sep 1994). "cDNA cloning of the human monocarboxylate transporter 1 and chromosomal localization of the SLC16A1 locus to 1p13.2-p12". Genomics. 23 (2): 500–3. doi:10.1006/geno.1994.1532. PMID 7835905.
^ "Entrez Gene: SLC16A1 solute carrier family 16, member 1 (monocarboxylic acid transporter 1)".
^ Felmlee MA, Jones RS, Morris ME (2020). "Monocarboxylate Transporters (SLC16): Function, Regulation, and Role in Health and Disease". Pharmacological Reviews. 72 (2): 466–485. doi:10.1124/pr.119.018762. PMC 7062045. PMID 32144120.
^ Liu Z, Sun Y, Hong H, Zhao S, Zou X, Ma R, Jiang C, Wang Z, Li H, Liu H (2015-08-15). "3-bromopyruvate enhanced daunorubicin-induced cytotoxicity involved in monocarboxylate transporter 1 in breast cancer cells". American Journal of Cancer Research. 5 (9): 2673–85. doi:10.1158/1538-7445.AM2015-2673. PMC 4633897. PMID 26609475.
^ Ladanyi M, Antonescu CR, Drobnjak M, Baren A, Lui MY, Golde DW, Cordon-Cardo C (Apr 2002). "The precrystalline cytoplasmic granules of alveolar soft part sarcoma contain monocarboxylate transporter 1 and CD147". The American Journal of Pathology. 160 (4): 1215–21. doi:10.1016/S0002-9440(10)62548-5. PMC 1867200. PMID 11943706.
^ Pullen TJ, Sylow L, Sun G, Halestrap AP, Richter EA, Rutter GA (Jul 2012). "Overexpression of monocarboxylate transporter-1 (SLC16A1) in mouse pancreatic β-cells leads to relative hyperinsulinism during exercise". Diabetes. 61 (7): 1719–25. doi:10.2337/db11-1531. PMC 3379650. PMID 22522610.
^ "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7". omim.org. Retrieved 2023-08-21.
^ "MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY; MCT1D". omim.org. Retrieved 2023-08-21.
^ "ERYTHROCYTE LACTATE TRANSPORTER DEFECT". omim.org. Retrieved 2023-08-21.

Bonen A (Nov 2001). "The expression of lactate transporters (MCT1 and MCT4) in heart and muscle". European Journal of Applied Physiology. 86 (1): 6–11. doi:10.1007/s004210100516. PMID 11820324. S2CID 12166288.
Halestrap AP, Meredith D (Feb 2004). "The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond". Pflügers Archiv: European Journal of Physiology. 447 (5): 619–28. doi:10.1007/s00424-003-1067-2. PMID 12739169. S2CID 15498611.
Kim CM, Goldstein JL, Brown MS (Nov 1992). "cDNA cloning of MEV, a mutant protein that facilitates cellular uptake of mevalonate, and identification of the point mutation responsible for its gain of function". The Journal of Biological Chemistry. 267 (32): 23113–21. doi:10.1016/S0021-9258(18)50064-8. PMID 1429658.
Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Ritzhaupt A, Wood IS, Ellis A, Hosie KB, Shirazi-Beechey SP (Dec 1998). "Identification and characterization of a monocarboxylate transporter (MCT1) in pig and human colon: its potential to transport L-lactate as well as butyrate". The Journal of Physiology. 513 (Pt 3): 719–32. doi:10.1111/j.1469-7793.1998.719ba.x. PMC 2231331. PMID 9824713.
Rahman B, Schneider HP, Bröer A, Deitmer JW, Bröer S (Aug 1999). "Helix 8 and helix 10 are involved in substrate recognition in the rat monocarboxylate transporter MCT1". Biochemistry. 38 (35): 11577–84. doi:10.1021/bi990973f. PMID 10471310.
Brooks GA, Brown MA, Butz CE, Sicurello JP, Dubouchaud H (Nov 1999). "Cardiac and skeletal muscle mitochondria have a monocarboxylate transporter MCT1". Journal of Applied Physiology. 87 (5): 1713–8. doi:10.1152/jappl.1999.87.5.1713. PMID 10562613. S2CID 1484319.
Merezhinskaya N, Fishbein WN, Davis JI, Foellmer JW (Jan 2000). "Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport". Muscle & Nerve. 23 (1): 90–7. doi:10.1002/(SICI)1097-4598(200001)23:1<90::AID-MUS12>3.0.CO;2-M. PMID 10590411. S2CID 36707820.
Kirk P, Wilson MC, Heddle C, Brown MH, Barclay AN, Halestrap AP (Aug 2000). "CD147 is tightly associated with lactate transporters MCT1 and MCT4 and facilitates their cell surface expression". The EMBO Journal. 19 (15): 3896–904. doi:10.1093/emboj/19.15.3896. PMC 306613. PMID 10921872.
Cuff MA, Lambert DW, Shirazi-Beechey SP (Mar 2002). "Substrate-induced regulation of the human colonic monocarboxylate transporter, MCT1". The Journal of Physiology. 539 (Pt 2): 361–71. doi:10.1113/jphysiol.2001.014241. PMC 2290148. PMID 11882670.
Cuff MA, Shirazi-Beechey SP (Apr 2002). "The human monocarboxylate transporter, MCT1: genomic organization and promoter analysis". Biochemical and Biophysical Research Communications. 292 (4): 1048–56. doi:10.1006/bbrc.2002.6763. PMID 11944921.
Lambert DW, Wood IS, Ellis A, Shirazi-Beechey SP (Apr 2002). "Molecular changes in the expression of human colonic nutrient transporters during the transition from normality to malignancy". British Journal of Cancer. 86 (8): 1262–9. doi:10.1038/sj.bjc.6600264. PMC 2375337. PMID 11953883.
Zhang GZ, Huang GJ, Li WL, Wu GM, Qian GS (Jul 2002). "[Effect of co-inhibition of MCT1 gene and NHE1 gene on proliferation and growth of human lung adenocarcinoma cells]". AI Zheng = Aizheng = Chinese Journal of Cancer. 21 (7): 719–23. PMID 12479094.
Philp NJ, Wang D, Yoon H, Hjelmeland LM (Apr 2003). "Polarized expression of monocarboxylate transporters in human retinal pigment epithelium and ARPE-19 cells". Investigative Ophthalmology & Visual Science. 44 (4): 1716–21. doi:10.1167/iovs.02-0287. PMID 12657613.
Asada K, Miyamoto K, Fukutomi T, Tsuda H, Yagi Y, Wakazono K, Oishi S, Fukui H, Sugimura T, Ushijima T (2003). "Reduced expression of GNA11 and silencing of MCT1 in human breast cancers". Oncology. 64 (4): 380–8. doi:10.1159/000070297. PMID 12759536. S2CID 9041712.

Membrane proteins, carrier proteins: membrane transport proteins solute carrier (TC 2A)

By group

SLC1–10

(1):	high affinity glutamate and neutral amino-acid transporter SLC1A1 2 3 4 5 6 7
(2):	facilitative GLUT transporter SLC2A1 2 3 4 5 6 7 8 9 10 11 12 13 14
(3):	heavy subunits of heterodimeric amino-acid transporters SLC3A1 2
(4):	bicarbonate transporter SLC4A1 2 3 4 5 6 7 8 9 10 11
(5):	sodium glucose cotransporter SLC5A1 2 3 4 5 6 7 8 9 10 11 12
(6):	sodium- and chloride- dependent sodium:neurotransmitter symporters SLC6A1 SLC6A2 SLC6A3 SLC6A4 SLC6A5 SLC6A6 SLC6A7 SLC6A8 SLC6A9 SLC6A10 SLC6A11 SLC6A12 SLC6A13 SLC6A14 SLC6A15 SLC6A16 SLC6A17 SLC6A18 SLC6A19 SLC6A20
(7):	cationic amino-acid transporter/glycoprotein-associated SLC7A1 SLC7A2 SLC7A3 SLC7A4 glycoprotein-associated/light or catalytic subunits of heterodimeric amino-acid transporters SLC7A5 SLC7A6 SLC7A7 SLC7A8 SLC7A9 SLC7A10 SLC7A11 SLC7A13 SLC7A14
(8):	Na⁺/Ca²⁺ exchanger SLC8A1 SLC8A2 SLC8A3
(9):	Na⁺/H⁺ exchanger SLC9A1 SLC9A2 SLC9A3 SLC9A4 SLC9A5 SLC9A6 SLC9A7 SLC9A8 SLC9A9 SLC9A10 SLC9A11
(10):	sodium bile salt cotransport SLC10A1 SLC10A2 SLC10A3 SLC10A4 SLC10A5 SLC10A6 SLC10A7 10A1 10A2 10A3 10A7

SLC11–20

(11):	proton coupled metal ion transporter SLC11A1 SLC11A2 11A3
(12):	electroneutral cation-Cl cotransporter SLC12A1 SLC12A2 SLC12A3 SLC12A4 SLC12A5 SLC12A6 SLC12A7 SLC12A8 SLC12A9
(13):	human Na⁺-sulfate/carboxylate cotransporter SLC13A1 SLC13A2 SLC13A3 SLC13A4 SLC13A5
(14):	urea transporter SLC14A1 SLC14A2
(15):	proton oligopeptide cotransporter SLC15A1 SLC15A2 SLC15A3 SLC15A4
(16):	monocarboxylate transporter SLC16A1 SLC16A2 SLC16A3 SLC16A4 SLC16A5 SLC16A6 SLC16A7 SLC16A8 SLC16A9 SLC16A10 SLC16A11 SLC16A12 SLC16A13 SLC16A14
(17):	Vesicular glutamate transporter 1 SLC17A1 SLC17A2 SLC17A3 SLC17A4 SLC17A5 SLC17A6 SLC17A7 SLC17A8 SLC17A9
(18):	vesicular monoamine transporter SLC18A1 SLC18A2 SLC18A3
(19):	folate/thiamine transporter SLC19A1 SLC19A2 SLC19A3
(20):	type III Na⁺-phosphate cotransporter SLC20A1 SLC20A2

SLC21–30

(21):	Organic anion-transporting polypeptide SLCO1A2 SLCO1B1 SLCO1B3 SLCO1B4 SLCO1C1 SLCO2A1 SLCO2B1 SLCO3A1 SLCO4A1 SLCO4C1 SLCO5A1(SLCO6A1)
(22):	organic cation/anion/zwitterion transporter SLC22A1 SLC22A2 SLC22A3 SLC22A4 SLC22A5 SLC22A6 SLC22A7 SLC22A8 SLC22A9 SLC22A10 SLC22A11 SLC22A12 SLC22A13 SLC22A14 SLC22A15 SLC22A16 SLC22A17 SLC22A18 SLC22A19 SLC22A20
(23):	Na+-dependent ascorbic acid transporter SLC23A1 SLC23A2 SLC23A3 SLC23A4
(24):	Na⁺/(Ca²⁺-K⁺) exchanger SLC24A1 SLC24A2 SLC24A3 SLC24A4 SLC24A5 SLC24A6
(25):	mitochondrial carrier SLC25A1 SLC25A2 SLC25A3 SLC25A4 SLC25A5 SLC25A6 SLC25A7 SLC25A8 SLC25A9 SLC25A10 SLC25A11 SLC25A12 SLC25A13 SLC25A14 SLC25A15 SLC25A16 SLC25A17 SLC25A18 SLC25A19 SLC25A20 SLC25A21 SLC25A22 SLC25A23 SLC25A24 SLC25A25 SLC25A26 SLC25A27 SLC25A28 SLC25A29 SLC25A30 SLC25A31 SLC25A32 SLC25A33 SLC25A34 SLC25A35 SLC25A36 SLC25A37 SLC25A38 SLC25A39 SLC25A40 SLC25A41 SLC25A42 SLC25A43 SLC25A44 SLC25A45 SLC25A46
(26):	multifunctional anion exchanger SLC26A1 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A6 SLC26A7 SLC26A8 SLC26A9 SLC26A10 SLC26A11
(27):	fatty acid transport proteins SLC27A1 SLC27A2 SLC27A3 SLC27A4 SLC27A5 SLC27A6
(28):	Na⁺-coupled nucleoside transport (SLC28A1 SLC28A2 SLC28A3
(29):	facilitative nucleoside transporter SLC29A1 SLC29A2 SLC29A3 SLC29A4
(30):	zinc efflux SLC30A1 SLC30A2 SLC30A3 SLC30A4 SLC30A5 SLC30A6 SLC30A7 SLC30A8 SLC30A9 SLC30A10

SLC31–40

(31):	copper transporter SLC31A1
(32):	Vesicular glutamate transporter 1 SLC32A1
(33):	Acetyl-CoA transporter SLC33A1
(34):	type II Na⁺-phosphate cotransporter SLC34A1 SLC34A2 SLC34A3
(35):	nucleoside-sugar transporter SLC35A1 SLC35A2 SLC35A3 SLC35A4 SLC35A5 SLC35B1 SLC35B2 SLC35B3 SLC35B4 SLC35C1 SLC35C2 SLC35D1 SLC35D2 SLC35D3 SLC35E1 SLC35E2 SLC35E3 SLC35E4
(36):	proton-coupled amino-acid transporter SLC36A1 SLC36A2 SLC36A3 SLC36A436A2
(37):	sugar-phosphate/phosphate exchanger SLC37A1 SLC37A2 SLC37A3 SLC37A4
(38):	System A & N, sodium-coupled neutral amino-acid transporter SLC38A1 SLC38A2 SLC38A3 SLC38A4 SLC38A5 SLC38A6 SLC38A10
(39):	metal ion transporter SLC39A1 SLC39A2 SLC39A3 SLC39A4 SLC39A5 SLC39A6 SLC39A7 SLC39A8 SLC39A9 SLC39A10 SLC39A11 SLC39A12 SLC39A13 SLC39A14
(40):	basolateral iron transporter SLC40A1

SLC41–48

(41):	Magnesium transporter E SLC41A1 SLC41A2 SLC41A3
(42):	Ammonia transporter RhAG RhBG RhCG
(43):	Na⁺-independent, system-L like amino-acid transporter SLC43A1 SLC43A2 SLC43A3
(44):	Choline-like transporter SLC44A1 SLC44A2 SLC44A3 SLC44A4 SLC44A5
(45):	Putative sugar transporter SLC45A1 SLC45A2 SLC54A3 SLC45A4
(46):	Folate transporter SLC46A1 SLC46A2
(47):	multidrug and toxin extrusion SLC47A1 SLC47A2
(48):	Heme transporter

SLCO1–4
O1A2 O1B1 O1B3 O2B1 O431 O4A1

Ion pumps

Symporter, Cotransporter	Na⁺/K⁺,Cl⁻ Na⁺/P_i3 Na⁺/Cl⁻ Na⁺/glucose Na⁺/I⁻ Cl⁻/K⁺ 4 5
Antiporter (exchanger)	Na⁺/H⁺ Na⁺/Ca²⁺ Na⁺/(Ca²⁺-K⁺) - Cl⁻/HCO⁻ ₃ (Band 3) Cl⁻-formate Cl⁻-oxalate

see also solute carrier disorders

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders
Including glycogen storage diseases (GSD)

Sucrose, transport
(extracellular)

Disaccharide catabolism	Congenital alactasia Sucrose intolerance
Monosaccharide transport	Glucose-galactose malabsorption Inborn errors of renal tubular transport (Renal glycosuria) Fructose malabsorption De Vivo Disease (GLUT1 deficiency) Fanconi-Bickel syndrome (GLUT2 deficiency)

Hexose → glucose

Monosaccharide catabolism

Fructose:	Essential fructosuria Fructose intolerance
Galactose / galactosemia:	GALK deficiency GALT deficiency/GALE deficiency

Glucose ⇄ glycogen

Glycogenesis

GSD type 0 (glycogen synthase deficiency)
GSD type IV (Andersen's disease, branching enzyme deficiency)
Adult polyglucosan body disease (APBD)
Lafora disease
GSD type XV (glycogenin deficiency)

Glycogenolysis

Extralysosomal:	GSD type III (Cori's disease, debranching enzyme deficiency) GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency) GSD type V (McArdle's disease, myophosphorylase deficiency) GSD type IX (phosphorylase kinase deficiency) Phosphoglucomutase deficiency (PGM1-CDG, CDG1T, formerly GSD-XIV)
Lysosomal (LSD):	Glycogen storage disease type II (Pompe's disease, glucosidase deficiency, formerly GSD-IIa) Danon disease (LAMP2 deficiency, formerly GSD-IIb)

Glucose ⇄ CAC

Glycolysis	MODY 2/HHF3 GSD type VII (Tarui's disease, phosphofructokinase deficiency) Triosephosphate isomerase deficiency Pyruvate kinase deficiency Aldolase A deficiency Phosphoglucose isomerase deficiency Phosphoglycerate kinase deficiency Mitochondrial pyruvate carrier deficiency (MPC1 deficiency)
Gluconeogenesis	Pyruvate carboxylase deficiency Fructose bisphosphatase deficiency GSD type I (von Gierke's disease, glucose 6-phosphatase deficiency)

Pentose phosphate pathway

Glucose-6-phosphate dehydrogenase deficiency
Transaldolase deficiency
SDDHD (Transketolase deficiency)
6-phosphogluconate dehydrogenase deficiency

Other

Hyperoxaluria
- Primary hyperoxaluria
Pentosuria
Fatal congenital nonlysosomal cardiac glycogenosis (AMP-activated protein kinase deficiency, PRKAG2)

v t e Genetic disorder, membrane: Solute carrier disorders
1-10	SLC1A3 Episodic ataxia 6 SLC1A4 SPATCCM SLC2A1 De Vivo disease SLC2A2 Fanconi-Bickel syndrome SLC2A5 Fructose malabsorption SLC2A10 Arterial tortuosity syndrome SLC3A1 Cystinuria SLC4A1 Hereditary spherocytosis 4/Hereditary elliptocytosis 4 SLC4A11 Congenital endothelial dystrophy type 2 Fuchs' dystrophy 4 SLC5A1 Glucose-galactose malabsorption SLC5A2 Renal glycosuria SLC5A5 Thyroid dyshormonogenesis type 1 SLC6A19 Hartnup disease SLC7A7 Lysinuric protein intolerance SLC7A9 Cystinuria
11-20	SLC11A1 Crohn's disease SLC12A3 Gitelman syndrome SLC16A1 HHF7 SLC16A2 Allan–Herndon–Dudley syndrome SLC17A3 Von Gierke's disease, GSD-Ic SLC17A5 Salla disease SLC17A8 DFNA25
21-40	SLC26A2 Multiple epiphyseal dysplasia 4 Achondrogenesis type 1B Recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia SLC26A4 Pendred syndrome SLC35C1 CDOG 2C SLC37A4 Von Gierke's disease, GSD-Ib SLC39A4 Acrodermatitis enteropathica SLC40A1 African iron overload
51-60	SLC54A1 (Mitochondrial pyruvate carrier deficiency)
see also solute carrier family