Recombinant Human B (0,+)-type amino acid transporter 1 (SLC7A9), partial

1. Study shows that various computational tools were able to distinguish cystinuria-causing mutations from benign polymorphisms. Only missense mutation V142A had a benign effect on the protein structure and function of SLC7A9. The intron variant c.604+66C>G in SLC7A9 gene probably affected the splicing process. PMID: 30069816
2. Thirteen pediatric patients with cystine stones were evaluated in our clinic between 2012 and 2015. Gene mutations in SLC3A1 and SLC7A9 were investigated PMID: 28689648
3. Spectrum of SLC3A1 and SLC7A9 mutations in cystinuria patients presenting with prenatal hyperechoic colon has been described. PMID: 28646536
4. Analysis showing how different mutations in SLC3A1 and SLC7A9 affect severity of cystinuria. PMID: 28812535
5. A new variation in exon 4 of the SLC7A9 gene was identified in cystinuria patients, which was insertion of 1 adenine nucleotide between 2 cytosine nucleotides in position c.213-214insA. PMID: 28270646
6. Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients PMID: 26540609
7. G105R but not R333W mutation found in Iranian cystinuria patients PMID: 26123750
8. Report no association of SLC7A9 mutations with clinical course of disease in cystinuria patients. PMID: 25964309
9. Case Report: novel mutation of SLC7A9 gene in cystinuria. PMID: 25599739
10. We present six family members with a complex phenotypic profile of cystinuria based on mutations in SLC3A1 (type A) or SLC7A9 (type B). PMID: 24045899
11. In SLC7A9 gene, one large genomic rearrangement and 24 sequence variants are found in cystinuria patients. PMID: 21255007
12. Studies identified 6 different alleles in SLC3A1 and 2 in SLC7A9 accounting for a total of 25 copy number changes, 11 in SLC3A1 and 14 in SLC7A9. PMID: 19782624
13. a decreasing expression gradient of heterodimeric rBAT-b(0,+)AT along the proximal tubule is responsible for virtually all apical cystine reabsorption PMID: 12167606
14. in cystinuria, the detection rate for mutations in SLC7A9 in children was 25% in the SLC7A9 gene for non-type I chromosomes. PMID: 12234283
15. The finding of SLC7A9 mutations in all three subtypes underscores the complex interactions between specific cystinuria genes and other factors influencing cystine excretion. PMID: 12371955
16. Three novel SLC7A9 mutations were identified: two missense mutations (P261L and V330M) and one single base-pair deletion (1009 delA) PMID: 12820697
17. deletions in SLC7A9 in cystinuria PMID: 14531788
18. Mutations of this protein have a population-specific distribution among south-east Europeans living in Germany. PMID: 14991253
19. Mutational analysis should focus on this gene in inheritance of cytinuria. PMID: 15635077
20. Disease: cystinuria, type non-I.Deletion codon 50. PMID: 15818799
21. gene deletion , codon 423 in cystinuria, type non-1. PMID: 15818803
22. SLC3A1 and SLC7A9 mutations may have roles in cystinuria PMID: 16138908
23. Mutations of SLC7A9 for Japanese cystinuria patients are different from those reported for European and American population. PMID: 16609684
24. all carriers of a SLC7A9 mutation manifested cystinuria if their normal allele had non-wild type nucleotides in two or more of the identified polymorphic sites PMID: 16838140
25. a novel splice-acceptor site mutation in the SLC7A9 gene may have a role in cystinuria [case report] PMID: 17701443
26. To characterize the clinical features and analyze the genetic basis of cystinuria in an inbred Moslem Arab Israeli family. Sequencing of this gene revealed a missense mutation, P482L, in the homozygous state in all three affected sibs PMID: 17710781
27. Twenty-four novel mutations in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinyuria genes are reported. PMID: 18752446
28. SLC3A1 and SLC7A9 mutations identified in 52 Greek cystinuria patients; in total 14 mutations were identified in SLC3A1 and 12 in SLC7A9. PMID: 18778962
29. Suggest that amino acid transporters B(0)AT1 and b(0,+)AT are involved in the reabsorption of L-citrulline in the kidney, at least in part, by mediating the apical membrane transport of L-citrulline in renal tubule cells. PMID: 19322909

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HGNC: 11067

OMIM: 220100

KEGG: hsa:11136

STRING: 9606.ENSP00000023064

UniGene: Hs.743345