CLDN19
From Wikipedia, the free encyclopedia
| Claudin 19 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | CLDN19; HOMG5 | ||||||||||||
| External IDs | OMIM: 610036 MGI: 3033992 HomoloGene: 17528 GeneCards: CLDN19 Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 149461 | 242653 | |||||||||||
| Ensembl | ENSG00000164007 | ENSMUSG00000066058 | |||||||||||
| UniProt | Q8N6F1 | Q9ET38 | |||||||||||
| RefSeq (mRNA) | NM_001123395 | NM_001038590 | |||||||||||
| RefSeq (protein) | NP_001116867 | NP_001033679 | |||||||||||
| Location (UCSC) | Chr 1: 43.2 – 43.21 Mb | Chr 4: 119.26 – 119.26 Mb | |||||||||||
| PubMed search | |||||||||||||
Claudin-19 is a protein that in humans is encoded by the CLDN19 gene.[1] It belongs to the group of claudins. Claudin-19 has been implicated in magnesium transport.[2][3]
Claudins, such as CLDN19, are transmembrane proteins found at tight junctions. Tight junctions form barriers that control the passage of ions and molecules across an epithelial sheet and the movement of proteins and lipids between apical and basolateral domains of epithelial cells (Lee et al., 2006).[supplied by OMIM][1]
References
- ↑ 1.0 1.1 "Entrez Gene: CLDN19 claudin 19".
- ↑ Naeem, M.; Hussain, S.; Akhtar, N. (2011). "Mutation in the Tight-Junction Gene Claudin 19 (CLDN19) and Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis (FHHNC) and Severe Ocular Disease". American Journal of Nephrology 34 (3): 241–248. doi:10.1159/000330854. PMID 21791920.
- ↑ Konrad, M.; Schaller, A.; Seelow, D.; Pandey, A. V.; Waldegger, S.; Lesslauer, A.; Vitzthum, H.; Suzuki, Y.; Luk, J. M.; Becker, C.; Schlingmann, K. P.; Schmid, M.; Rodriguez-Soriano, J.; Ariceta, G.; Cano, F.; Enriquez, R.; Jüppner, H.; Bakkaloglu, S. A.; Hediger, M. A.; Gallati, S.; Neuhauss, S. C. F.; Nürnberg, P.; Weber, S. (2006). "Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement". The American Journal of Human Genetics 79 (5): 949–957. doi:10.1086/508617. PMC 1698561. PMID 17033971.
Further reading
- Kniesel U, Wolburg H (2000). "Tight junctions of the blood–brain barrier.". Cell. Mol. Neurobiol. 20 (1): 57–76. doi:10.1023/A:1006995910836. PMID 10690502.
- Heiskala M, Peterson PA, Yang Y (2001). "The roles of claudin superfamily proteins in paracellular transport.". Traffic 2 (2): 93–8. doi:10.1034/j.1600-0854.2001.020203.x. 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. doi:10.1016/S0955-0674(02)00362-9. PMID 12231346.
- González-Mariscal L, Betanzos A, Nava P, Jaramillo BE (2003). "Tight junction proteins.". Prog. Biophys. Mol. Biol. 81 (1): 1–44. doi:10.1016/S0079-6107(02)00037-8. PMID 12475568.
- 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. PMC 139241. PMID 12477932.
- 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.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Lee NP, Tong MK, Leung PP, et al. (2006). "Kidney claudin-19: localization in distal tubules and collecting ducts and dysregulation in polycystic renal disease.". FEBS Lett. 580 (3): 923–31. doi:10.1016/j.febslet.2006.01.019. PMID 16427635.
- Konrad M, Schaller A, Seelow D, et al. (2006). "Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.". Am. J. Hum. Genet. 79 (5): 949–57. doi:10.1086/508617. PMC 1698561. PMID 17033971.
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