SLC4A11

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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 Template:OMIM5 Template:MGI HomoloGene12931
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Solute carrier family 4, sodium bicarbonate transporter-like, member 11, also known as SLC4A11, is a human gene.[1]


See also

References

  1. "Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11".

Further reading

  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. 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. 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.
  • Luong A, Hannah VC, Brown MS, Goldstein JL (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.
  • Parker MD, Ourmozdi EP, Tanner MJ (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.
  • 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. 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.
  • Vithana EN, Morgan P, Sundaresan P; et al. (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.
  • 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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