SLC36A2

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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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. 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.
  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. PMC 2579706. PMID 19033659.

Further reading



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