Sodium bicarbonate transporter-like protein 11 explained

Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.^{[1] [2] [3] [4]}

See also

• Solute carrier family
• Congenital endothelial dystrophy type 2

Further reading

• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery. . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
• Callaghan M, Hand CK, Kennedy SM, etal . Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct . The British Journal of Ophthalmology . 83 . 1 . 115–9 . 1999 . 10209448 . 10.1136/bjo.83.1.115 . 1722772 .
• Hand CK, Harmon DL, Kennedy SM, etal . Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping . Genomics . 61 . 1 . 1–4 . 1999 . 10512674 . 10.1006/geno.1999.5920 .
• Deloukas P, Matthews LH, Ashurst J, etal . The DNA sequence and comparative analysis of human chromosome 20 . Nature . 414 . 6866 . 865–71 . 2002 . 11780052 . 10.1038/414865a . 2001Natur.414..865D . free .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Moroi SE, Gokhale PA, Schteingart MT, etal . Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy . Am. J. Ophthalmol. . 135 . 4 . 461–70 . 2003 . 12654361 . 10.1016/S0002-9394(02)02032-9 . 10.1.1.582.4887 .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Park M, Li Q, Shcheynikov N, etal . NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation . Mol. Cell . 16 . 3 . 331–41 . 2004 . 15525507 . 10.1016/j.molcel.2004.09.030 . free .
• Jiao X, Sultana A, Garg P, etal . Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11 . J. Med. Genet. . 44 . 1 . 64–8 . 2007 . 16825429 . 10.1136/jmg.2006.044644 . 2597914 .
• Desir J, Moya G, Reish O, etal . Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy . J. Med. Genet. . 44 . 5 . 322–6 . 2007 . 17220209 . 10.1136/jmg.2006.046904 . 2597979 .
• Kumar A, Bhattacharjee S, Prakash DR, Sadanand CS . Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11 . Mol. Vis. . 13 . 39–46 . 2007 . 17262014 . 2503190 .
• Ramprasad VL, Ebenezer ND, Aung T, etal . Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online . Hum. Mutat. . 28 . 5 . 522–3 . 2007 . 17397048 . 10.1002/humu.9487 . 2980020 . free .
• Aldave AJ, Yellore VS, Bourla N, etal . Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11 . Cornea . 26 . 7 . 896–900 . 2007 . 17667634 . 10.1097/ICO.0b013e318074bb01 . 20814910 .
• Sultana A, Garg P, Ramamurthy B, etal . Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy . Mol. Vis. . 13 . 1327–32 . 2007 . 17679935 .

Notes and References

1. Luong A, Hannah VC, Brown MS, Goldstein JL . Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins . J Biol Chem . 275 . 34 . 26458–66 . Sep 2000 . 10843999 . 10.1074/jbc.M004160200 . free .
2. Parker MD, Ourmozdi EP, Tanner MJ . Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney . Biochem Biophys Res Commun . 282 . 5 . 1103–9 . Apr 2001 . 11302728 . 10.1006/bbrc.2001.4692 .
3. Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T . Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2) . Nat Genet . 38 . 7 . 755–7 . Jun 2006 . 16767101 . 10.1038/ng1824 . 11112294 .
4. Web site: Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11.