Sodium-dependent neutral amino acid transporter B(0)AT1 is a protein that in humans is encoded by the SLC6A19gene.[5]
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.[6][7]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ abKleta 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 (September 2004). "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder". Nat. Genet. 36 (9): 999–1002. doi:10.1038/ng1405. PMID15286787.
^Bröer A, Klingel K, Kowalczuk S, Rasko JE, Cavanaugh J, Bröer S (June 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. PMID15044460.{{cite journal}}: CS1 maint: unflagged free DOI (link)
^Bröer S (January 2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiol. Rev. 88 (1): 249–286. doi:10.1152/physrev.00018.2006. PMID18195088.
^Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE (September 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. PMID15286788.
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. PMID18671945. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (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. PMID14702039. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (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. PMID11394870. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (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. PMID19335424. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (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. PMID19322909. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (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. PMID17555458. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)