Biology:Proton-coupled amino acid transporter 2
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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
References
- ↑ 1.0 1.1 "A cluster of proton/amino acid transporter genes in the human and mouse genomes". Genomics 82 (1): 47–56. July 2003. doi:10.1016/S0888-7543(03)00099-5. PMID 12809675.
- ↑ "Functional characterization of two novel mammalian electrogenic proton-dependent amino acid cotransporters". J. Biol. Chem. 277 (25): 22966–73. June 2002. doi:10.1074/jbc.M200374200. PMID 11959859.
- ↑ "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. doi:10.1172/JCI36625. PMID 19033659.
Further reading
- "Organization and expression of the SLC36 cluster of amino acid transporter genes.". Mamm. Genome 15 (2): 114–25. 2004. doi:10.1007/s00335-003-2319-3. PMID 15058382.
- "Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.". Gut 58 (8): 1078–83. 2009. doi:10.1136/gut.2008.169052. PMID 19240061. https://research.vumc.nl/en/publications/9f0b4115-baf6-4bc6-ab6b-4fd7f23f0f0a.
- "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- 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.
- "Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations.". Tissue Antigens 74 (5): 408–16. 2009. doi:10.1111/j.1399-0039.2009.01359.x. PMID 19845895.
- "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. doi:10.1074/jbc.M305556200. PMID 14600155.
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