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solute carrier family 36 (proton/amino acid symporter), member 2
Identifiers
Symbol SLC36A2
Entrez 153201
HUGO 18762
OMIM 608331
RefSeq NM_181776
UniProt Q495M3
Other data
Locus Chr. 5 q33.1

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.[2][1]

Clinical significance

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

References

  1. ^ a b 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.  
  2. ^ 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.  
  3. ^ 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. PMID 19033659.  
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