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

Sodium-dependent neutral amino acid transporter B(0)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 disease.^{[1] [4]}

Further reading

• Seol SY . Minisatellite polymorphisms of the SLC6A19: susceptibility in hypertension . Biochem. Biophys. Res. Commun. . 374 . 4 . 714–719 . 2008 . 18671945 . 10.1016/j.bbrc.2008.07.094 . vanc . Lee SY . Kim YD . 3 . Do . E . Kwon . J . Kim . S . Chu . I . Leem . S.
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–45 . 2004 . 14702039 . 10.1038/ng1285 . vanc . Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free.
• Azmanov DN . Further evidence for allelic heterogeneity in Hartnup disorder . Hum. Mutat. . 29 . 10 . 1217–1221 . 2008 . 18484095 . 10.1002/humu.20777 . vanc . Kowalczuk S . Rodgers H . 3 . Auray-Blais . Christiane . Christiane Auray . Giguère . Robert . Rasko . John E.J. . Bröer . Stefan . Cavanaugh . Juleen A. . 27812953.
• Nozaki J . Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder . Biochem. Biophys. Res. Commun. . 284 . 2 . 255–260 . 2001 . 11394870 . 10.1006/bbrc.2001.4961 . vanc . Dakeishi M . Ohura T . 3 . Inoue . K . Manabe . M . Wada . Y . Koizumi . A.
• Zheng Y . A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder . Int. J. Dermatol. . 48 . 4 . 388–392 . 2009 . 19335424 . 10.1111/j.1365-4632.2009.03989.x . vanc . Zhou C . Huang Y . 3 . Bu . Dingfang . Zhu . Xuejun . Jiang . Wei . 10229286.
• Mitsuoka K . Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells . Biopharm Drug Dispos . 30 . 3 . 126–137 . 2009 . 19322909 . 10.1002/bdd.653 . vanc . Shirasaka Y . Fukushi A . 3 . Sato . Masanobu . Nakamura . Toshimichi . Nakanishi . Takeo . Tamai . Ikumi . 20101533.
• Azmanov . DN . Persistence of the common Hartnup disease D173N allele in populations of European origin . Ann. Hum. Genet. . 71 . Pt 6 . 755–761 . 2007 . 17555458 . 10.1111/j.1469-1809.2007.00375.x . vanc . Rodgers . H . Auray-Blais . C . 3 . Christiane Auray . Giguère . Robert . Bailey . Charles . Bröer . Stefan . Rasko . John E. J. . Cavanaugh . Juleen A. . 46125073.

Notes and References

1. 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 . Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder . Nat. Genet. . 36 . 9 . 999–1002 . September 2004 . 15286787 . 10.1038/ng1405 . 155361 . free .
2. Bröer A, Klingel K, Kowalczuk S, Rasko JE, Cavanaugh J, Bröer S . 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 . June 2004 . 15044460 . 10.1074/jbc.M400904200 . free .
3. Bröer S . Amino acid transport across mammalian intestinal and renal epithelia . Physiol. Rev. . 88 . 1 . 249–286 . January 2008 . 18195088 . 10.1152/physrev.00018.2006 .
4. Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE . Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19 . Nat. Genet. . 36 . 9 . 1003–1007 . September 2004 . 15286788 . 10.1038/ng1406 . free .