CLDN5

From Wikipedia, the free encyclopedia


Claudin 5 (transmembrane protein deleted in velocardiofacial syndrome)
Identifiers
Symbol(s) CLDN5; AWAL; BEC1; CPETRL1; TMVCF
External IDs OMIM: 602101 MGI1276112 HomoloGene2459
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 7122 12741
Ensembl ENSG00000184113 ENSMUSG00000041378
Uniprot O00501 O54942
Refseq NM_003277 (mRNA)
NP_003268 (protein)
NM_013805 (mRNA)
NP_038833 (protein)
Location Chr 22: 17.89 - 17.9 Mb Chr 16: 18.69 - 18.69 Mb
Pubmed search [1] [2]

Claudin 5 (transmembrane protein deleted in velocardiofacial syndrome), also known as CLDN5, is a human gene.[1] It belongs to the group of claudins.

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome.[1]

[edit] References

[edit] Further reading

  • Kniesel U, Wolburg H (2000). "Tight junctions of the blood-brain barrier.". Cell. Mol. Neurobiol. 20 (1): 57–76. PMID 10690502. 
  • Heiskala M, Peterson PA, Yang Y (2001). "The roles of claudin superfamily proteins in paracellular transport.". Traffic 2 (2): 93–8. PMID 11247307. 
  • Tsukita S, Furuse M, Itoh M (2001). "Multifunctional strands in tight junctions.". Nat. Rev. Mol. Cell Biol. 2 (4): 285–93. doi:10.1038/35067088. PMID 11283726. 
  • Tsukita S, Furuse M (2003). "Claudin-based barrier in simple and stratified cellular sheets.". Curr. Opin. Cell Biol. 14 (5): 531–6. PMID 12231346. 
  • González-Mariscal L, Betanzos A, Nava P, Jaramillo BE (2003). "Tight junction proteins.". Prog. Biophys. Mol. Biol. 81 (1): 1–44. PMID 12475568. 
  • King JE, Eugenin EA, Buckner CM, Berman JW (2006). "HIV tat and neurotoxicity.". Microbes Infect. 8 (5): 1347–57. doi:10.1016/j.micinf.2005.11.014. PMID 16697675. 
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298. 
  • Sirotkin H, Morrow B, Saint-Jore B, et al. (1997). "Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome.". Genomics 42 (2): 245–51. PMID 9192844. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149. 
  • Peacock RE, Keen TJ, Inglehearn CF (1998). "Analysis of a human gene homologous to rat ventral prostate.1 protein.". Genomics 46 (3): 443–9. doi:10.1006/geno.1997.5033. PMID 9441748. 
  • Morita K, Furuse M, Fujimoto K, Tsukita S (1999). "Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands.". Proc. Natl. Acad. Sci. U.S.A. 96 (2): 511–6. PMID 9892664. 
  • Itoh M, Furuse M, Morita K, et al. (2000). "Direct binding of three tight junction-associated MAGUKs, ZO-1, ZO-2, and ZO-3, with the COOH termini of claudins.". J. Cell Biol. 147 (6): 1351–63. PMID 10601346. 
  • Kojima S, Rahner C, Peng S, Rizzolo LJ (2002). "Claudin 5 is transiently expressed during the development of the retinal pigment epithelium.". J. Membr. Biol. 186 (2): 81–8. doi:10.1007/s00232-001-0137-7. PMID 11944085. 
  • Poliak S, Matlis S, Ullmer C, et al. (2002). "Distinct claudins and associated PDZ proteins form different autotypic tight junctions in myelinating Schwann cells.". J. Cell Biol. 159 (2): 361–72. doi:10.1083/jcb.200207050. PMID 12403818. 
  • 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.