claudin-19 (CLDN19)
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Function
- plays a major role in tight junction-specific obliteration of the intercellular space, through Ca+2-independent cell-adhesion activity (putative)
Structure
- belongs to the claudin family
Compartment
- cell junction, tight junction
- cell membrane; multi-pass membrane protein
Alternative splicing
named isoforms=2
Pathology
- defects in CLDN19 are the cause of hypomagnesemia renal with ocular involvement
More general terms
References
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=149461
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:149461
- OMIM: https://mirror.omim.org/entry/248190
- OMIM: https://mirror.omim.org/entry/610036
- UniProt: http://www.uniprot.org/uniprot/Q8N6F1.html