Y+L amino acid transporter 1 is a protein that in humans is encoded by the SLC7A7 gene .[5] [6]
Interactions
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See also
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References
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Further reading
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Lauteala T, Sistonen P, Savontaus ML, et al. (1997). "Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14" . Am. J. Hum. Genet . 60 (6): 1479–86. doi :10.1086/515457 . PMC 1716131 . PMID 9199570 .
Pfeiffer R, Rossier G, Spindler B, et al. (1999). "Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family" . EMBO J . 18 (1): 49–57. doi :10.1093/emboj/18.1.49 . PMC 1171101 . PMID 9878049 .
Borsani G, Bassi MT, Sperandeo MP, et al. (1999). "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance". Nat. Genet . 21 (3): 297–301. doi :10.1038/6815 . PMID 10080183 . S2CID 38960307 .
Sperandeo MP, Bassi MT, Riboni M, et al. (2000). "Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance" . Am. J. Hum. Genet . 66 (1): 92–9. doi :10.1086/302700 . PMC 1288352 . PMID 10631139 .
Mykkänen J, Torrents D, Pineda M, et al. (2000). "Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)" . Hum. Mol. Genet . 9 (3): 431–8. doi :10.1093/hmg/9.3.431 . PMID 10655553 .
Noguchi A, Shoji Y, Koizumi A, et al. (2000). "SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families" . Hum. Mutat . 15 (4): 367–72. doi :10.1002/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO;2-C . PMID 10737982 . S2CID 29088822 .
Shoji Y, Noguchi A, Shoji Y, et al. (2003). "Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance" . Hum. Mutat . 20 (5): 375–81. doi :10.1002/humu.10140 . PMID 12402335 . S2CID 23833183 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 . PMC 139241 . PMID 12477932 .
Mykkänen J, Toivonen M, Kleemola M, et al. (2003). "Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1)". Biochem. Biophys. Res. Commun . 301 (4): 855–61. doi :10.1016/S0006-291X(03)00054-8 . PMID 12589791 .
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 . PMID 15489334 .
Sperandeo MP, Paladino S, Maiuri L, et al. (2005). "A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance" . Eur. J. Hum. Genet . 13 (5): 628–34. doi :10.1038/sj.ejhg.5201376 . PMID 15756301 .
Sperandeo MP, Annunziata P, Ammendola V, et al. (2006). "Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene" . Hum. Mutat . 25 (4): 410. doi :10.1002/humu.9323 . PMID 15776427 .
Puomila K; Simell O; Huoponen K; Mykkänen J (2007). "Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7". Mol. Genet. Metab . 90 (3): 298–306. doi :10.1016/j.ymgme.2006.11.007 . PMID 17196863 .
Cimbalistiene L; Lehnert W; Huoponen K; Kucinskas V (2007). "First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis". J. Appl. Genet . 48 (3): 277–80. doi :10.1007/BF03195224 . PMID 17666782 . S2CID 24454281 .
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