SLC6A20

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SLC6A20
Identifiers
Aliases SLC6A20, SIT1, XT3, Xtrp3, solute carrier family 6 member 20
External IDs MGI: 2143217 HomoloGene: 10625 GeneCards: SLC6A20
Genetically Related Diseases
smallpox[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020208
NM_022405

NM_139142

RefSeq (protein)

NP_064593
NP_071800

NP_631881.1
NP_631881

Location (UCSC) Chr 3: 45.76 – 45.8 Mb Chr 9: 123.63 – 123.68 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Solute carrier family 6, member 20 also known as SLC6A20 is a protein which in humans is encoded by the SLC6A20 gene.[4][5]

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.[6]

Clinical significance[edit]

Mutation in the SLC6A20 gene are associated with iminoglycinuria.[7]

References[edit]

  1. ^ "Diseases that are genetically associated with SLC6A20 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ "Entrez Gene: ADCY10". 
  7. ^ 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): 3881–92. doi:10.1172/JCI36625. PMC 2579706Freely accessible. PMID 19033659. 

Further reading[edit]