| 释义 |
- See also
- References
- Further reading
{{Infobox_gene}}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
References1. ^{{cite journal | vauthors = Luong A, Hannah VC, Brown MS, Goldstein JL | title = Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins | journal = J Biol Chem | volume = 275 | issue = 34 | pages = 26458–66 |date=Sep 2000 | pmid = 10843999 | pmc = | doi = 10.1074/jbc.M004160200 }}
2. ^{{cite journal | vauthors = Parker MD, Ourmozdi EP, Tanner MJ | title = Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney | journal = Biochem Biophys Res Commun | volume = 282 | issue = 5 | pages = 1103–9 |date=Apr 2001 | pmid = 11302728 | pmc = | doi = 10.1006/bbrc.2001.4692 }}
3. ^{{cite journal | vauthors = 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 | title = Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2) | journal = Nat Genet | volume = 38 | issue = 7 | pages = 755–7 |date=Jun 2006 | pmid = 16767101 | pmc = | doi = 10.1038/ng1824 }}
4. ^{{cite web | title = Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83959| accessdate = }}
Further reading{{refbegin | 2}}- {{cite journal | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
- {{cite journal |vauthors=Callaghan M, Hand CK, Kennedy SM, etal |title=Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct |journal=The British Journal of Ophthalmology |volume=83 |issue= 1 |pages= 115–9 |year= 1999 |pmid= 10209448 |doi=10.1136/bjo.83.1.115 | pmc=1722772 }}
- {{cite journal |vauthors=Hand CK, Harmon DL, Kennedy SM, etal |title=Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping |journal=Genomics |volume=61 |issue= 1 |pages= 1–4 |year= 1999 |pmid= 10512674 |doi= 10.1006/geno.1999.5920 }}
- {{cite journal |vauthors=Deloukas P, Matthews LH, Ashurst J, etal |title=The DNA sequence and comparative analysis of human chromosome 20 |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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 | pmc=139241 }}
- {{cite journal |vauthors=Moroi SE, Gokhale PA, Schteingart MT, etal |title=Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy |journal=Am. J. Ophthalmol. |volume=135 |issue= 4 |pages= 461–70 |year= 2003 |pmid= 12654361 |doi=10.1016/S0002-9394(02)02032-9 |citeseerx=10.1.1.582.4887 }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
- {{cite journal |vauthors=Park M, Li Q, Shcheynikov N, etal |title=NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation |journal=Mol. Cell |volume=16 |issue= 3 |pages= 331–41 |year= 2004 |pmid= 15525507 |doi= 10.1016/j.molcel.2004.09.030 }}
- {{cite journal |vauthors=Jiao X, Sultana A, Garg P, etal |title=Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11 |journal=J. Med. Genet. |volume=44 |issue= 1 |pages= 64–8 |year= 2007 |pmid= 16825429 |doi= 10.1136/jmg.2006.044644 | pmc=2597914 }}
- {{cite journal |vauthors=Desir J, Moya G, Reish O, etal |title=Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non‐syndromic corneal endothelial dystrophy |journal=J. Med. Genet. |volume=44 |issue= 5 |pages= 322–6 |year= 2007 |pmid= 17220209 |doi= 10.1136/jmg.2006.046904 | pmc=2597979 }}
- {{cite journal | vauthors=Kumar A, Bhattacharjee S, Prakash DR, Sadanand CS |title=Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11 |journal=Mol. Vis. |volume=13 |issue= |pages= 39–46 |year= 2007 |pmid= 17262014 |doi= | pmc=2503190 }}
- {{cite journal |vauthors=Ramprasad VL, Ebenezer ND, Aung T, etal |title=Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online |journal=Hum. Mutat. |volume=28 |issue= 5 |pages= 522–3 |year= 2007 |pmid= 17397048 |doi= 10.1002/humu.9487 }}
- {{cite journal |vauthors=Aldave AJ, Yellore VS, Bourla N, etal |title=Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11 |journal=Cornea |volume=26 |issue= 7 |pages= 896–900 |year= 2007 |pmid= 17667634 |doi= 10.1097/ICO.0b013e318074bb01 }}
- {{cite journal |vauthors=Sultana A, Garg P, Ramamurthy B, etal |title=Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy |journal=Mol. Vis. |volume=13 |issue= |pages= 1327–32 |year= 2007 |pmid= 17679935 |doi= }}
{{refend}}{{Solute carrier family|bg|bg0}}{{membrane-protein-stub}} 1 : Solute carrier family |