SLC36A2
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Solute carrier family 36, member 2 also known as SLC36A2 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]
References
- ↑ 1.0 1.1 Boll M, Foltz M, Rubio-Aliaga I, Daniel H (July 2003). "A cluster of proton/amino acid transporter genes in the human and mouse genomes". Genomics. 82 (1): 47–56. doi:10.1016/S0888-7543(03)00099-5. PMID 12809675.
- ↑ Boll M, Foltz M, Rubio-Aliaga I, Kottra G, Daniel H (June 2002). "Functional characterization of two novel mammalian electrogenic proton-dependent amino acid cotransporters". J. Biol. Chem. 277 (25): 22966–73. doi:10.1074/jbc.M200374200. PMID 11959859.
- ↑ Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE (December 2008). "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters". J. Clin. Invest. 118 (12): 3881–92. doi:10.1172/JCI36625. PMC 2579706. PMID 19033659.
Further reading
- Bermingham JR, Pennington J (2004). "Organization and expression of the SLC36 cluster of amino acid transporter genes". Mamm. Genome. 15 (2): 114–25. doi:10.1007/s00335-003-2319-3. PMID 15058382.
- Trynka G, Zhernakova A, Romanos J, et al. (2009). "Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling". Gut. 58 (8): 1078–83. doi:10.1136/gut.2008.169052. PMID 19240061.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Bröer S (2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiol. Rev. 88 (1): 249–86. doi:10.1152/physrev.00018.2006. PMID 18195088.
- Koskinen LL, Einarsdottir E, Korponay-Szabo IR, et al. (2009). "Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations". Tissue Antigens. 74 (5): 408–16. doi:10.1111/j.1399-0039.2009.01359.x. PMID 19845895.
- Rubio-Aliaga I, Boll M, Vogt Weisenhorn DM, et al. (2004). "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. doi:10.1074/jbc.M305556200. PMID 14600155.
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