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The official name of this gene is “claudin 14.”
CLDN14 is the gene's official symbol. The CLDN14 gene is also known by other names, listed below.
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]
Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
Deafness, autosomal recessive, 29 (DFNB29): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by mutations affecting the gene represented in this entry.
|614035 (http://omim.org/entry/614035)||DEAFNESS, AUTOSOMAL RECESSIVE 29|
|605608 (http://omim.org/entry/605608)||CLAUDIN 14|
Cytogenetic Location: 21q22.3
Molecular Location on chromosome 21: base pairs 36,460,621 to 36,580,085
The CLDN14 gene is located on the long (q) arm of chromosome 21 at position 22.3.
More precisely, the CLDN14 gene is located from base pair 36,460,621 to base pair 36,580,085 on chromosome 21.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CLDN14 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
autosomal ; autosomal recessive ; bone mineral density ; calcium ; cell ; cell adhesion ; domain ; epithelial ; gene ; kidney ; kidney stones ; mineral ; protein ; recessive ; sensorineural ; sensorineural hearing loss ; tight junctions ; transcript
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.