Biology:SLC4A11
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 Generic protein structure example |
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
References
- ↑ "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. doi:10.1074/jbc.M004160200. PMID 10843999.
- ↑ "Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney". Biochem Biophys Res Commun 282 (5): 1103–9. Apr 2001. doi:10.1006/bbrc.2001.4692. PMID 11302728.
- ↑ "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)". Nat Genet 38 (7): 755–7. Jun 2006. doi:10.1038/ng1824. PMID 16767101.
- ↑ "Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83959.
Further reading
- "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. 1997. doi:10.1101/gr.6.9.791. PMID 8889548.
- "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. doi:10.1136/bjo.83.1.115. PMID 10209448.
- "Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping". Genomics 61 (1): 1–4. 1999. doi:10.1006/geno.1999.5920. PMID 10512674.
- "The DNA sequence and comparative analysis of human chromosome 20". Nature 414 (6866): 865–71. 2002. doi:10.1038/414865a. PMID 11780052.
- "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. doi:10.1073/pnas.242603899. PMID 12477932.
- "Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy". Am. J. Ophthalmol. 135 (4): 461–70. 2003. doi:10.1016/S0002-9394(02)02032-9. PMID 12654361.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "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. doi:10.1016/j.molcel.2004.09.030. PMID 15525507.
- "Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11". J. Med. Genet. 44 (1): 64–8. 2007. doi:10.1136/jmg.2006.044644. PMID 16825429.
- "Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non‐syndromic corneal endothelial dystrophy". J. Med. Genet. 44 (5): 322–6. 2007. doi:10.1136/jmg.2006.046904. PMID 17220209.
- "Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11". Mol. Vis. 13: 39–46. 2007. PMID 17262014.
- "Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online". Hum. Mutat. 28 (5): 522–3. 2007. doi:10.1002/humu.9487. PMID 17397048.
- "Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11". Cornea 26 (7): 896–900. 2007. doi:10.1097/ICO.0b013e318074bb01. PMID 17667634.
- "Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy". Mol. Vis. 13: 1327–32. 2007. PMID 17679935.
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