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PCDH15 polymorphism is associated with extraversion.
Results present structures of a protocadherin-15 fragment featuring a non-canonical linker region that exhibits increased flexibility without compromising mechanical strength.
This study confirms that genetic variations in PCDH15 modify the susceptibility to noise-induced hearing loss development in humans.
Results uncovered a novel interaction between MYO3A (show MYO3A Proteins) and PCDH15 shedding new light on the function of myosin IIIA (show MYO3A Proteins) at stereocilia tips.
no statistically significant association between any rare, heterozygous PCDH15 point variants and schizophrenia or autism spectrum disorders was found
PCDH15 p.Asp1010Gly variant probably modified the phenotypic expression of the 7511T>C mutation in MT-TS1
The novel homozygous mutation in a family segregating non-syndromic hearing loss family supports previous reported observations that PCDH15 does not only causes Usher syndrome type 1F, but also DFNB23.
PCDH15 or DFNB59 (show DFNB59 Proteins) variants are associated with poor CI performance, yet children with PCDH15 or DFNB59 (show DFNB59 Proteins) variants might show clinical features indistinguishable from those of other typical pediatric cochlear implant recipients.
PCDH15 has several alternate cytoplasmic domain exons and differentially spliced isoforms may function redundantly
Genetic variations of PCDH15 and their interactions with occupational noise exposure are associated with genetic susceptibility t onoise-induced hearing loss.
data show that LHFPL5 (show LHFPL5 Proteins) is already present in the MET apparatus at P0 but requires PCDH15 at P3 to remain there. Shaft/ankle link localisation suggests it interacts with link proteins other than PCDH15
Through an interaction with PIST (show GOPC Proteins), PCDH15 is retained in the trans-Golgi network and its expression is reduced in the plasma membrane.
Absence of Pcdh15-CD2 (show CCND2 Proteins) isoform results in the loss of tip-links in mature auditory hair cells.
Pcdh15 as a determinant of SERT (show SLC6A4 Proteins) protein expression and 5-HT (show DDC Proteins) homeostasis.
the involvement of the gene Pcdh15 in auditory function
These results offer new insights into the interaction between PCDH15 and CDH23 and help explain the etiology of human deafness linked to mutations in the tip-link interface.
crystallography, molecular dynamics simulations and binding experiments to characterize the protocadherin 15-cadherin 23 bond
Pcdh15 variants colocalize with rab5 (show RAB5A Proteins) and traffic apically to the hair cell bundle.
A novel synaptic Usher complex comprised of clarin-1 and specific isoforms of CDH23, PCDH15 and VLGR1, was identified.
results therefore provide genetic evidence consistent with PCDH15 and CDH23 being part of the tip-link complex and necessary for normal mechanotransduction
This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur.
cadherin-related family member 15
, Ames waltzer
, protocadherin 15 CD2
, protocadherin 15 CD3 isoform
, protocadherin 15