Sodium-dependent neutral amino acid transporter B(0)AT1

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Template:PBB Solute carrier family 6 member 19 also known as the sodium-dependent neutral amino acid transporter B(0)AT1 or system B(0) neutral amino acid transporter AT1 is a protein that in humans is encoded by the SLC6A19 gene.[1]

Function

SLC6A19 is a system B(0) transporter that mediates epithelial resorption of neutral amino acids across the apical membrane in the kidney and intestine.[2][3]

Clinical significance

Mutations in the SLC6A19 gene cause Hartnup disorder.[1][4]

References

  1. ^ a b Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A (2004). "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder". Nat. Genet. 36 (9): 999–1002. doi:10.1038/ng1405. PMID 15286787. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  2. ^ Bröer A, Klingel K, Kowalczuk S, Rasko JE, Cavanaugh J, Bröer S (2004). "Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder". J. Biol. Chem. 279 (23): 24467–24476. doi:10.1074/jbc.M400904200. PMID 15044460. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
  3. ^ Bröer S (2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiol. Rev. 88 (1): 249–286. doi:10.1152/physrev.00018.2006. PMID 18195088. {{cite journal}}: Unknown parameter |month= ignored (help)
  4. ^ Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE (2004). "Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19". Nat. Genet. 36 (9): 1003–1007. doi:10.1038/ng1406. PMID 15286788. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)

Further reading

  • Seol SY; Lee SY; Kim YD; et al. (2008). "Minisatellite polymorphisms of the SLC6A19: susceptibility in hypertension". Biochem. Biophys. Res. Commun. 374 (4): 714–719. doi:10.1016/j.bbrc.2008.07.094. PMID 18671945. {{cite journal}}: Unknown parameter |author-separator= ignored (help)
  • Ota T; Suzuki Y; Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039. {{cite journal}}: Unknown parameter |author-separator= ignored (help)
  • Azmanov DN; Kowalczuk S; Rodgers H; et al. (2008). "Further evidence for allelic heterogeneity in Hartnup disorder". Hum. Mutat. 29 (10): 1217–1221. doi:10.1002/humu.20777. PMID 18484095. {{cite journal}}: Unknown parameter |author-separator= ignored (help)
  • Nozaki J; Dakeishi M; Ohura T; et al. (2001). "Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder". Biochem. Biophys. Res. Commun. 284 (2): 255–260. doi:10.1006/bbrc.2001.4961. PMID 11394870. {{cite journal}}: Unknown parameter |author-separator= ignored (help)
  • Zheng Y; Zhou C; Huang Y; et al. (2009). "A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder". Int. J. Dermatol. 48 (4): 388–392. doi:10.1111/j.1365-4632.2009.03989.x. PMID 19335424. {{cite journal}}: Unknown parameter |author-separator= ignored (help)
  • Mitsuoka K; Shirasaka Y; Fukushi A; et al. (2009). "Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells". Biopharm Drug Dispos. 30 (3): 126–137. doi:10.1002/bdd.653. PMID 19322909. {{cite journal}}: Unknown parameter |author-separator= ignored (help)
  • Azmanov DN; Rodgers H; Auray-Blais C; et al. (2007). "Persistence of the common Hartnup disease D173N allele in populations of European origin". Ann. Hum. Genet. 71 (Pt 6): 755–761. doi:10.1111/j.1469-1809.2007.00375.x. PMID 17555458. {{cite journal}}: Unknown parameter |author-separator= ignored (help)
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