Recombinant Human Sodium bicarbonate transporter-like protein 11 (SLC4A11), partial

1. Based on these findings, we infer that high SLC4A11 expression is an independent predictor for poor OS in grade 3/4 serous ovarian cancer. Both DNA amplification and hypomethylation contribute to its upregulation in ovarian cancer PMID: 29091960
2. A missense SLC4A11 mutation (Leu843Pro) is responsible for CHED2 in this family; this is the first report of this mutation in a homozygous state. PMID: 27057589
3. for the first time, compound heterozygous SLC4A11 mutations impair protein function leading to delayed onset of the disease. PMID: 27609159
4. These complex ion transport properties need to be addressed in the context of corneal endothelial disease processes caused by mutations in SLC4A11. PMID: 27581649
5. A role of human SLC4A11 in bicarbonate or borate transport. PMID: 27558157
6. Slc4a11 is an ideally selective H(+)/OH(-) conductive pathway. PMID: 27681179
7. SLC4A11 rs3810560 polymorphism independently affected the sustained viral response rates in chronic hepatitis C patients treated with PEGIFN2b/ribavirin/combination. PMID: 26750805
8. Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy found no evidence for found polymorophisms causing the disease in this specific pedigree. PMID: 27121161
9. study reports a newly identified mutation (c.2024A>C) in the SLC4A11 gene segregating with the diseased haplotype in two consanguineous Pakistani families PMID: 26286922
10. we report posterior polymorphous corneal dystrophy resulting from a de novo mutation in ZEB1. Additionally, we present a congenital hereditary endothelial dystrophy case with a thin Descemet membrane with a novel compound heterozygous SLC4A11 mutation. PMID: 26619383
11. we review the current knowledge on the role of the SLC4A11 gene, protein, and its mutations in the pathophysiology and clinical presentation of CHED. [review] PMID: 26451371
12. We report a novel nonsense mutation of the SLC4A11 gene in the patient with CHED2. In addition, one of heterozygous carriers in this family showed features of late onset Fuchs endothelial corneal dystrophy. PMID: 24502824
13. SLC4A11 mutations contribute to 11% (5/45) of sporadic late-onset Late-onset Fuchs endothelial corneal dystrophy (FECD) in the cohort studied. PMID: 25007886
14. SLC4A11 is a novel NH3/H+ co-transporter. PMID: 26018076
15. We found that cells containing mutant SLC4A11 are more vulnerable to oxidative and mitochondrial damage, less able to overcome oxidative stress through the expression of sufficient levels of antioxidant genes, and are more prone to apoptotic death. PMID: 25811729
16. In contrast to the Slc4a11(-/-) mouse, no abnormalities in daily renal ion excretion or polyuria were observed in the Harboyan syndrome patient. PMID: 25500497
17. Potential therapeutic agents to improve the functional impairment of specific SLC4A11 mutant transporters. PMID: 25394471
18. We have described three affected siblings from a non-consanguineous family with Corneal Endothelial Dystrophy 2. PMID: 25138764
19. Our observations suggest that congenital hereditary endothelial dystrophy caused by homozygous SLC4A11 mutations progresses to Harboyan syndrome, but the severity of this may vary considerably. PMID: 24351571
20. Variation in the COL8A2, SLC4A11, and ZEB1 genes is present in only a small fraction of African American cases and as such does not appear to significantly contribute to the genetic risk of Fuchs endothelial corneal dystrophy. PMID: 24348007
21. Data shows that the function of SLCA11 is to facilitate the movement of water across the basolateral corneal epithelium. PMID: 23813972
22. To the best of our knowledge, this is the first Korean case of CHED2, confirmed by the c.1239C>A (p.C413*) mutation in the SLC4A11 gene, which has not been previously reported. PMID: 23615275
23. SLC4A11 has significant EIPA-sensitive Na(+)-OH(-)(H(+)) and NH4(+) permeability. PMID: 23864606
24. The purpose of this study was to identify the genetic cause of congenital hereditary endothelial dystrophy 2 in six Indian families and catalog all known mutations in the SLC4A11 gene. PMID: 23922488
25. Both substitution c.214+242C > T in IL1RN and novel deletion c.2558+149_2558+203del54 in SLC4A11 were observed significantly more frequently in family members with keratoconus. PMID: 23462747
26. SLC4A11 is necessary for cell survival and may explain the pathologic corneal endothelial cell loss in endotheliopathies due to SLC4A11 mutations. PMID: 22447871
27. The reduction in movement of WT SLC4A11 protein to the cell surface caused by Fuchs endothelial corneal dystrophy SLC4A11 helps to explain the dominant inheritance of this disorder. PMID: 22072594
28. biochemical study of SLC4A11 PMID: 21288032
29. The present study detected one novel and three reported changes, adding to the repertoire of mutations in SLC4A11, and recorded a high degree of genetic heterogeneity in Congenital Hereditary Endothelial Dystrophy. PMID: 21203343
30. sequenced SLC4A11 in 192 sporadic and small nuclear late-onset Fuchs corneal dystrophy families and found seven heterozygous missense novel variations that were absent from ethnically matched controls PMID: 20848555
31. Corneal endothelial cells are more vulnerable to defects in the functional activity of SLC4A11 than cells of the striae vascularis of the inner ear. PMID: 20118786
32. The corneal dystrophy and perceptive deafness (Harboyan syndrome) gene (CDPD1) maps to chromosome 20p13. PMID: 11836359
33. describe seven different mutations in the SLC4A11 gene in ten families with autosomal recessive congenital hereditary endothelial dystrophy PMID: 16767101
34. These results confirm that mutations in the SLC4A11 gene cause autosomal recessive corneal endothelial dystrophy. PMID: 16825429
35. These findings extend the implication of the SLC4A11 borate transporter beyond corneal dystrophy to perceptive deafness. PMID: 17220209
36. Novel indel mutation, c.859_862delGAGAinsCCT (E287fsX21) in exon 8 of SLC4A11 gene. Novel in-frame deletion mutation c.2014_2016delTTC or 2017_2019delTTC which will lead to loss of a phenylalanine residue at position 672 or 673 (F672del or F673del). PMID: 17262014
37. report of seven novel mutations and two previously identified mutations in families from India and the United Kingdom with recessive congenital hereditary endothelial dystrophy PMID: 17397048
38. CHED2 (congenital hereditary endothelial dystrophy) is associated with mutations in SLC4A11, a member of the SLC4 family of base transporters. PMID: 17667634
39. These data add to the mutational repertoire of SLC4A11 and establish the high degree of mutational heterogeneity in autosomal recessive congenital hereditary endothelial dystrophy. PMID: 17679935
40. SLC4A11 mutations in Fuchs' endothelial corneal dystrophy are reported. PMID: 18024964
41. A novel SLC4A11 mutation (Thr271Met) is associated with autosomal recessive congenital hereditary endothelial dystrophy in a pedigree from the Kingdom of Saudi Arabia and provides additional support that mutations in this gene cause disease. PMID: 18363173
42. This study increases the number of SLC4A11 gene mutations and confirms the role of this gene in causing congenital hereditary endothelial dystrophy (CHED2). PMID: 18474783
43. In this small cohort, no evidence was found of genetic heterogeneity in congenital hereditary endothelial dystrophy (CHED) and that loss of BTR1 function is the most likely mutational mechanism. PMID: 19369245

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HGNC: 16438

OMIM: 217400

KEGG: hsa:83959

STRING: 9606.ENSP00000369399

UniGene: Hs.105607