SLC36A2

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SLC36A2
Identifiers
Aliases SLC36A2, PAT2, TRAMD1, solute carrier family 36 member 2
External IDs MGI: 1891430 HomoloGene: 72100 GeneCards: SLC36A2
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_181776

NM_153170

RefSeq (protein)

NP_861441

NP_694810.2
NP_694810

Location (UCSC) Chr 5: 151.31 – 151.35 Mb Chr 11: 55.16 – 55.19 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Solute carrier family 36, member 2 also known as SLC36A2 is a protein which in humans is encoded by the SLC36A2 gene.[3]

Function[edit]

SLC36A2 transports small amino acids (glycine, alanine, and proline) and also the D-enantiomers and select amino acid derivatives, such as gamma-aminobutyric acid.[3][4]

Clinical significance[edit]

Mutations in the SLC36A2 gene are associated with Iminoglycinuria.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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 2579706Freely accessible. PMID 19033659. 

Further reading[edit]