CLDN19
Sign in to saveAlso known as HOMG5, claudin 19
Claudin-19 is a protein that in humans is encoded by the CLDN19 gene. It belongs to the group of claudins. Claudin-19 has been implicated in magnesium transport.
Gene data
CLDN19- Name
- claudin 19
- Type
- protein-coding
- Aliases
- HOMG5
The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010].
via MyGene.info
Gene · Ensembl
claudin 19
- Symbol
- CLDN19
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:42,733,093-42,740,286
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 17528
- exact match
- identifiers.org/ncbigene/149461
- genomic end
- 43205925
- genomic start
- 43198764
- cytogenetic location
- 1p34.2
via Wikidata · CC0
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Article
3 sectionsContents
- References
- External links
- Further reading
Claudin-19 is a protein that in humans is encoded by the CLDN19 gene. It belongs to the group of claudins. Claudin-19 has been implicated in magnesium transport.
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]