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Solute carrier family 4, sodium bicarbonate transporter-like, member 11
Identifiers
Symbols SLC4A11; CHED2; NABC1; BTR1; MGC126418; MGC126419; dJ794I6.2
External IDs OMIM610206 MGI2138987 HomoloGene12931 GeneCards: SLC4A11 Gene
Orthologs
Species Human Mouse
Entrez 83959 269356
Ensembl ENSG00000088836 ENSMUSG00000074796
UniProt Q8NBS3 n/a
RefSeq (mRNA) NM_032034 XM_194050
RefSeq (protein) NP_114423 XP_194050
Location (UCSC) Chr 20:
3.16 - 3.17 Mb
Chr 2:
130.38 - 130.38 Mb
PubMed search [1] [2]

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

See also

References

  1. ^ Luong A, Hannah VC, Brown MS, Goldstein JL (Sep 2000). "Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins". J Biol Chem 275 (34): 26458-66. doi:10.1074/jbc.M004160200. PMID 10843999.  
  2. ^ Parker MD, Ourmozdi EP, Tanner MJ (Apr 2001). "Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney". Biochem Biophys Res Commun 282 (5): 1103-9. doi:10.1006/bbrc.2001.4692. PMID 11302728.  
  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 (Jun 2006). "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)". Nat Genet 38 (7): 755-7. doi:10.1038/ng1824. PMID 16767101.  
  4. ^ "Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83959.  

Further reading

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