CLDN19

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Claudin 19
Identifiers
Symbols CLDN19 ; HOMG5
External IDs OMIM610036 MGI3033992 HomoloGene17528 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 [1] [2]

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[edit]

  1. ^ a b "Entrez Gene: CLDN19 claudin 19". 
  2. ^ 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.  edit
  3. ^ 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.  edit

Further reading[edit]