| Structural highlights
Disease
S6A20_HUMAN Iminoglycinuria. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. Haploinsufficiency of SLC6A20 combined with deficiency of the neutral amino acid transporter SLC6A19 or partially inactivating mutations in SLC36A2, is responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families.
Function
S6A20_HUMAN Mediates the Na(+)- and Cl(-)-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids (PubMed:15632147, PubMed:19033659, PubMed:33428810). Also transports glycine, regulates proline and glycine homeostasis in the brain playing a role in the modulation of NMDAR currents (PubMed:33428810).[1] [2] [3]
References
- ↑ Takanaga H, Mackenzie B, Suzuki Y, Hediger MA. Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino. J Biol Chem. 2005 Mar 11;280(10):8974-84. Epub 2005 Jan 4. PMID:15632147 doi:http://dx.doi.org/M413027200
- ↑ Broer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Broer A, Rasko JE. Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. J Clin Invest. 2008 Dec;118(12):3881-92. doi: 10.1172/JCI36625. Epub 2008 Nov 6. PMID:19033659 doi:http://dx.doi.org/10.1172/JCI36625
- ↑ Bae M, Roh JD, Kim Y, Kim SS, Han HM, Yang E, Kang H, Lee S, Kim JY, Kang R, Jung H, Yoo T, Kim H, Kim D, Oh H, Han S, Kim D, Han J, Bae YC, Kim H, Ahn S, Chan AM, Lee D, Kim JW, Kim E. SLC6A20 transporter: a novel regulator of brain glycine homeostasis and NMDAR function. EMBO Mol Med. 2021 Feb 5;13(2):e12632. doi: 10.15252/emmm.202012632. Epub 2021 , Jan 11. PMID:33428810 doi:http://dx.doi.org/10.15252/emmm.202012632
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