SLC6A20

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Solute carrier family 6 (proline IMINO transporter), member 20
Identifiers
Symbols SLC6A20 ; SIT1; XT3; Xtrp3
External IDs OMIM605616 MGI2143217 HomoloGene10625 GeneCards: SLC6A20 Gene
Orthologs
Species Human Mouse
Entrez 54716 102680
Ensembl ENSG00000163817 ENSMUSG00000036814
UniProt Q9NP91 Q8VDB9
RefSeq (mRNA) NM_020208 NM_139142
RefSeq (protein) NP_064593 NP_631881
Location (UCSC) Chr 3:
45.8 – 45.84 Mb
Chr 9:
123.64 – 123.68 Mb
PubMed search [1] [2]

Solute carrier family 6, member 20 also known as SLC6A20 is a protein which in humans is encoded by the SLC6A20 gene.[1][2]

Function[edit]

Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl- coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants.[3]

Clinical significance[edit]

Mutation in the SLC6A20 gene are associated with iminoglycinuria.[4]

References[edit]

  1. ^ Nash SR, Giros B, Kingsmore SF, Kim KM, el-Mestikawy S, Dong Q, Fumagalli F, Seldin MF, Caron MG (1998). "Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms". Recept. Channels 6 (2): 113–28. PMID 9932288. 
  2. ^ Kiss H, Kedra D, Kiss C, Kost-Alimova M, Yang Y, Klein G, Imreh S, Dumanski JP (April 2001). "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3". Genomics 73 (1): 10–9. doi:10.1006/geno.2000.6498. PMID 11352561. 
  3. ^ "Entrez Gene: ADCY10". 
  4. ^ Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE (November 2008). "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters". J. Clin. Invest. 118 (12): 3881. doi:10.1172/JCI36625. PMC 2579706. PMID 19033659. 

Further reading[edit]