Proton-coupled amino acid transporter 2 explained

Proton-coupled amino acid transporter 2 is a protein which in humans is encoded by the SLC36A2 gene.^[1]

Function

SLC36A2 transports small amino acids (glycine, alanine, and proline) and also the D-enantiomers and select amino acid derivatives, such as gamma-aminobutyric acid.^{[1] [2]}

Clinical significance

Mutations in the SLC36A2 gene are associated with Iminoglycinuria.^[3]

See also

• Proton coupled amino acid transporter

Further reading

• Bermingham JR, Pennington J . Organization and expression of the SLC36 cluster of amino acid transporter genes. . Mamm. Genome . 15 . 2 . 114–25 . 2004 . 15058382 . 10.1007/s00335-003-2319-3 . 21418124 .
• Trynka G, Zhernakova A, Romanos J, etal . Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. . Gut . 58 . 8 . 1078–83 . 2009 . 19240061 . 10.1136/gut.2008.169052 . 17111427 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Bröer S . Amino acid transport across mammalian intestinal and renal epithelia. . Physiol. Rev. . 88 . 1 . 249–86 . 2008 . 18195088 . 10.1152/physrev.00018.2006 .
• Koskinen LL, Einarsdottir E, Korponay-Szabo IR, etal . Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations. . Tissue Antigens . 74 . 5 . 408–16 . 2009 . 19845895 . 10.1111/j.1399-0039.2009.01359.x .
• Rubio-Aliaga I, Boll M, Vogt Weisenhorn DM, etal . The proton/amino acid cotransporter PAT2 is expressed in neurons with a different subcellular localization than its paralog PAT1. . J. Biol. Chem. . 279 . 4 . 2754–60 . 2004 . 14600155 . 10.1074/jbc.M305556200 . free .

Notes and References

1. Boll M, Foltz M, Rubio-Aliaga I, Daniel H . A cluster of proton/amino acid transporter genes in the human and mouse genomes . Genomics . 82 . 1 . 47–56 . July 2003 . 12809675 . 10.1016/S0888-7543(03)00099-5 .
2. Boll M, Foltz M, Rubio-Aliaga I, Kottra G, Daniel H . Functional characterization of two novel mammalian electrogenic proton-dependent amino acid cotransporters . J. Biol. Chem. . 277 . 25 . 22966–73 . June 2002 . 11959859 . 10.1074/jbc.M200374200 . free .
3. Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE . Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters . J. Clin. Invest. . 118 . 12 . 3881–92 . December 2008 . 19033659 . 2579706 . 10.1172/JCI36625 .