[cite web | title = Entrez Gene: SLC7A7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9056| accessdate = ] ] PBB_Summary
section_title =
summary_text =
ee also
* Solute carrier family
* Lysinuric protein intolerance
References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Lauteala T, Sistonen P, Savontaus ML, "et al." |title=Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. |journal=Am. J. Hum. Genet. |volume=60 |issue= 6 |pages= 1479–86 |year= 1997 |pmid= 9199570 |doi=
*cite journal | author=Torrents D, Estévez R, Pineda M, "et al." |title=Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. |journal=J. Biol. Chem. |volume=273 |issue= 49 |pages= 32437–45 |year= 1999 |pmid= 9829974 |doi=
*cite journal | author=Pfeiffer R, Rossier G, Spindler B, "et al." |title=Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family. |journal=EMBO J. |volume=18 |issue= 1 |pages= 49–57 |year= 1999 |pmid= 9878049 |doi= 10.1093/emboj/18.1.49
*cite journal | author=Borsani G, Bassi MT, Sperandeo MP, "et al." |title=SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. |journal=Nat. Genet. |volume=21 |issue= 3 |pages= 297–301 |year= 1999 |pmid= 10080183 |doi= 10.1038/6815
*cite journal | author=Sperandeo MP, Bassi MT, Riboni M, "et al." |title=Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. |journal=Am. J. Hum. Genet. |volume=66 |issue= 1 |pages= 92–9 |year= 2000 |pmid= 10631139 |doi=
*cite journal | author=Mykkänen J, Torrents D, Pineda M, "et al." |title=Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). |journal=Hum. Mol. Genet. |volume=9 |issue= 3 |pages= 431–8 |year= 2000 |pmid= 10655553 |doi=
*cite journal | author=Noguchi A, Shoji Y, Koizumi A, "et al." |title=SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. |journal=Hum. Mutat. |volume=15 |issue= 4 |pages= 367–72 |year= 2000 |pmid= 10737982 |doi= 10.1002/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO;2-C |doilabel=10.1002/(SICI)1098-1004(200004)15:4367::AID-HUMU93.0.CO;2-C
*cite journal | author=Shoji Y, Noguchi A, Shoji Y, "et al." |title=Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. |journal=Hum. Mutat. |volume=20 |issue= 5 |pages= 375–81 |year= 2003 |pmid= 12402335 |doi= 10.1002/humu.10140
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Mykkänen J, Toivonen M, Kleemola M, "et al." |title=Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1). |journal=Biochem. Biophys. Res. Commun. |volume=301 |issue= 4 |pages= 855–61 |year= 2003 |pmid= 12589791 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Sperandeo MP, Paladino S, Maiuri L, "et al." |title=A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. |journal=Eur. J. Hum. Genet. |volume=13 |issue= 5 |pages= 628–34 |year= 2005 |pmid= 15756301 |doi= 10.1038/sj.ejhg.5201376
*cite journal | author=Sperandeo MP, Annunziata P, Ammendola V, "et al." |title=Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. |journal=Hum. Mutat. |volume=25 |issue= 4 |pages= 410 |year= 2006 |pmid= 15776427 |doi= 10.1002/humu.9323
*cite journal | author=Puomila K, Simell O, Huoponen K, Mykkänen J |title=Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7. |journal=Mol. Genet. Metab. |volume=90 |issue= 3 |pages= 298–306 |year= 2007 |pmid= 17196863 |doi= 10.1016/j.ymgme.2006.11.007
*cite journal | author=Cimbalistiene L, Lehnert W, Huoponen K, Kucinskas V |title=First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. |journal=J. Appl. Genet. |volume=48 |issue= 3 |pages= 277–80 |year= 2007 |pmid= 17666782 |doi=
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