Symbol: Name: ID: |
PCDH15 protocadherin-related 15 GFS:3958 |
Gene name: | PCDH15 |
Chromosome: | 10q21.1 |
Previous Symbols: | USH1F, DFNB23 |
Previous Names: | deafness, autosomal recessive 23, "protocadherin 15" |
Aliases: | CDHR15 |
Name Aliases: | cadherin-related family member 15 |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1891428 | Rat Genome Database ID: | |
HGNC ID: | HGNC:14674 | RefSeq IDs: | NM_001142763 |
Entrez Gene ID: | 65217 | Ensembl Gene ID: | ENSG00000150275 |
VEGA IDs: | OTTHUMG00000018259 | UniProt ID: | Q96QU1 |
UCSC ID: | uc010qhy.1 | OMIM ID: | 605514 |
Pubmed: | PMID11398101 PMID 14570705 | ||
CCDS IDs: | CCDSCCDS7248.1 CCDS CCDS44400.1 CCDS CCDS44401.1 CCDS CCDS44402.1 CCDS CCDS44403.1 CCDS CCDS44404.1 |
Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.
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. [provided by RefSeq, Dec 2008].
Function: Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.
Products for PCDH15 gene
Catalog | Product Name | Application | Company |
GFS:E03958 | protocadherin-related 15; ELISA kit | ELISA | n/a |
GFS:A03958 | protocadherin-related 15; Anti | ANTIBODIES | n/a |
GFS:P03958 | protocadherin-related 15; Protien | Protien | n/a |