PCDH15
PCDH15 (protocadherin related 15, also known as CDHR15, USH1F and DFNB23) is a calcium-dependent cell-adhesion protein of the cadherin superfamily. It is essential for the maintenance of normal retinal and cochlear function. Browse Assay Genie's current range of PCDH15 research reagents below, or read on for the biology behind the target.
PCDH15 is a calcium-dependent cell-adhesion protein. As a member of the cadherin superfamily, it belongs to a group of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. UniProt annotates it as essential for the maintenance of normal retinal and cochlear function, which places it at the centre of research into vision and hearing.
Protocadherin-15 is the protein product of the human PCDH15 gene. UniProt lists its subcellular locations as the cell membrane and secreted, consistent with its role as a membrane adhesion molecule. HGNC places the gene in the cadherin related group, and also in the group of microRNA protein coding host genes. The mouse ortholog is Pcdh15. Researchers studying the PCDH15 protein therefore work in the context of cell-cell adhesion in sensory tissues.
The gene has been known under several names. HGNC records the previous names as protocadherin 15 and deafness, autosomal recessive 23, and the aliases include CDHR15, USH1F and DFNB23. These names reflect its disease associations: according to the NCBI Gene summary, mutations in the PCDH15 gene result in hearing loss and Usher syndrome type IF (USH1F). Extensive alternative splicing producing multiple isoforms has been observed in the mouse ortholog, and similar spliced transcripts are inferred to occur in human, with additional variants likely. This makes isoform-aware experimental design relevant when studying PCDH15.
Mutations in PCDH15 result in hearing loss, and the protein is essential for normal cochlear function, making it a key target in deafness studies.
PCDH15 mutations cause Usher syndrome type IF (USH1F), so the protein is studied to understand this combined hearing and vision disorder.
UniProt annotates PCDH15 as essential for maintenance of normal retinal function, supporting its use in studies of retinal maintenance.
As a calcium-dependent cell-adhesion protein of the cadherin superfamily, PCDH15 is relevant to studies of cell-cell adhesion mechanisms.
PCDH15 is a calcium-dependent cell-adhesion protein of the cadherin superfamily. It is an integral membrane protein that mediates cell-cell adhesion, and it plays an essential role in the maintenance of normal retinal and cochlear function.
The gene is also called CDHR15, USH1F and DFNB23. Previous names given by HGNC are protocadherin 15 and deafness, autosomal recessive 23. The UniProt protein name is Protocadherin-15. Multiple isoforms arise through alternative splicing, which has been observed extensively in the mouse ortholog.
Yes. Mutations in the PCDH15 gene result in hearing loss and Usher syndrome type IF (USH1F). A mouse ortholog, Pcdh15, exists, and alternative splicing in it has informed predictions about human transcripts. Check the datasheet of any product for its validated reactivity.
Other protocadherins and cadherin-related proteins involved in calcium-dependent cell adhesion.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q96QU1; product specifications from Assay Genie datasheets.