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

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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]

References

  1. ↑ 1.0 1.1 "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder". Nat. Genet. 36 (9): 999–1002. September 2004. doi:10.1038/ng1405. PMID 15286787. 
  2. ↑ "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. doi:10.1074/jbc.M400904200. PMID 15044460. 
  3. ↑ 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. PMID 18195088. 
  4. ↑ "Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19". Nat. Genet. 36 (9): 1003–1007. September 2004. doi:10.1038/ng1406. PMID 15286788. 

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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 



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