Table 1.
Amino acid transporters included in this review, their function, and involvement in inherited metabolic disease.
| SLC | Substrate(s) | Function | Associated Inherited Metabolic Disease |
|---|---|---|---|
| SLC1A1 | Glu, Asp, Cys | System XAG | Dicarboxylic aminoaciduria |
| SLC1A2 | Glu, Asp | System XAG | Early infantile epileptic encephalopathy |
| SLC1A3 | Glu, Asp | System XAG | Episodic ataxia type 6 |
| SLC1A4 | Glu, neutral AA | System ASC | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
| SLC1A5 | Neutral AA | System ASC | |
| SLC1A6 | Glu, Asp | System XAG | |
| SLC1A7 | Glu, Asp | System XAG | |
| SLC3A1 | Cys, dibasic, and neutral AA | Heavy chains of heterodimeric AAT | Cystinuria |
| SLC3A2 | Dibasic and neutral AA | Heavy chains of heterodimeric AAT | |
| SLC6A5 | Gly | Gly transporter | Hyperekplexia 3 |
| SLC6A6 | Tau | Tau transporter | Retinal dystrophy |
| SLC6A7 | Pro | Pro transporter | |
| SLC6A9 | Gly | Gly transporter | Glycine encephalopathy with normal serum glycine |
| SLC6A14 | Cationic and neutral AA | System B0,+ | |
| SLC6A15 | Pro, Met, BCAAs | System B0 | |
| SLC6A17 | Pro, Gly, Leu, Ala, Glu | System B0 | Mental retardation, autosomal recessive 48 |
| SLC6A18 | Gly, Ala | System Gly | Hyperglycinuria |
| SLC6A19 | Neutral AA | System B0 | Hartnup disorder, iminoglycinuria, hyperglycinuria |
| SLC6A20 | Pro | System IMINO | Iminoglycinuria, hyperglycinuria |
| SLC7A1 | Lys, Arg, Orn | System y+ | |
| SLC7A2 | Lys, Arg, Orn | System y+ | SLC7A2-related argininemia |
| SLC7A3 | Lys, Arg, Orn | System y+ | |
| SLC7A4 | Cationic AA | System y+ | |
| SLC7A5 | Leu, Hys, Met, Ile, Val, Phe, Tyr, Trp | System L | |
| SLC7A6 | Lys, Arg, Orn, Hys, Met, Leu | System y+L | |
| SLC7A7 | Lys, Arg, Orn, Hys, Met, Leu, Ala, Cys | System y+L | Lysinuric protein intolerance |
| SLC7A8 | Neutral AA | System L | |
| SLC7A9 | Cys, dibasic and neutral AA | System b0,+ | Cystinuria |
| SLC7A10 | Gly, Ala, Ser, Cys, Thr | System ASC | |
| SLC7A11 | Glu, Asp, Cys | System y+ | |
| SLC7A12 | Gly, Ala, Ser, Cys, Thr | System ASC | |
| SLC7A13 | Glu, Asp, Cys | Glu/Asp/Cys transporter | Cystinuria |
| SLC7A14 | Arg, Lys, Orn | System C | Retinitis pigmentosa 68 |
| SLC16A10 | Trp, Tyr, Phe | System T | |
| SLC17A6 | Glu | Vesicular Glu transporter | |
| SLC17A7 | Glu | Vesicular Glu transporter | |
| SLC17A8 | Glu | Vesicular Glu transporter | Deafness, autosomal dominant 25 |
| SLC25A2 | Lys, Arg, Hys, Orn, Cit, ADMA | Orn/Cit carrier | |
| SLC25A12 | Asp, Glu | Asp/Glu carrier | Early infantile epileptic encephalopathy, 39 |
| SLC25A13 | Asp, Glu | Asp/Glu carrier | AGC2 deficiency |
| SLC25A15 | Lys, Arg, Hys, Orn, Cit | Orn/Cit carrier | Hyperornithinemia-hyperammonemia- homocitrullinuria (HHH) syndrome |
| SLC25A18 | Glu | Glu carrier | |
| SLC25A22 | Glu | Glu carrier | Early infantile epileptic encephalopathy, 3 |
| SLC25A29 | Arg, Lys, Orn, Hys | Basic AA transporter | |
| SLC32A1 | Gly, GABA | Vesicular Gly/GABA transporter | |
| SLC36A1 | Gly, Pro, Ala | Proton AA symporter | |
| SLC36A2 | Gly, Pro, Ala | Proton AA symporter | Iminoglycinuria, hyperglycinuria |
| SLC36A3 | Gly, Pro, Ala? | Proton AA symporter | |
| SLC36A4 | Pro, Trp, Ala | Proton AA symporter | |
| SLC38A1 | Gly, Alan, Ser, Cys, Gln, Asn, Hys, Met, Thr, Pro, Tyr, Val | System A | |
| SLC38A2 | Gly, Pro, Ala, Ser, Cys, Gln, Asn, Hys, Met | System A | |
| SLC38A3 | Gly, Pro, Ala, Ser, Cys, Gln, Met, Hys, Lys, Arg | System N | |
| SLC38A4 | Gly, Ala, Ser, Cys, Gln, Asn, Met | System A | |
| SLC38A5 | Gln, Asn, Hys, Ala | System N | |
| SLC38A7 | Gln, Ala, Hys, Asn, Ser | System N | |
| SLC38A8 | Gln, Ala, Arg, Hys, Asp | System A | Foveal hypoplasia, 2 |
| SLC38A9 | Gln | Lysosomal Gln transceptor | |
| SLC38A10 | Gln, Ala, Glu, Asp, Ser | System A | |
| SLC43A1 | Leu, Ile, Met, Phe, Val | System L | |
| SLC43A2 | Leu, Ile, Met, Phe, Val | System L | |
| SLC66A4 | Cys and cystathionine | Lysosomal Cys transporter | Cystinosis |