NP_001172046.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
claudin-19 isoform c
NCBI Official Synonym Full Names
claudin 19
NCBI Official Synonym Symbols
NCBI Protein Information
claudin-19
UniProt Protein Name
Claudin-19
UniProt Entry Name
CLD19_HUMAN
NCBI Summary for CLDN19
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]
UniProt Comments for CLDN19
Claudin-19: Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. Defects in CLDN19 are the cause of hypomagnesemia renal with ocular involvement (HOMG5). HOMG5 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. The renal phenotype is virtually undistinguishable from that of patients with HOMG3 with proven CLDN16 mutations. Belongs to the claudin family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 1p34.2
Cellular Component: apical junction complex; tight junction; basolateral plasma membrane; cytoplasm; integral to membrane; nucleus
Molecular Function: identical protein binding; structural molecule activity
Biological Process: apical junction assembly; visual perception; action potential propagation; response to stimulus; calcium-independent cell-cell adhesion
Disease: Hypomagnesemia 5, Renal, With Ocular Involvement
Research Articles on CLDN19
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with CLDN19 elisa kit
Pathways associated with CLDN19 elisa kit
Diseases associated with CLDN19 elisa kit
Organs/Tissues associated with CLDN19 elisa kit
|