GENE NAME | PCDH15 |
CHROMOSOME | 10 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000150275 |
UNIPROT ACCESSION NUMBER | A2A3E7 |
GO MOLECULAR FUNCTION | ['calcium ion binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
8 combinations linked to PCDH15 | OLI267; OLI1038; OLI1370; OLI266; OLI454; OLI260; OLI265; OLI259 |
7 variants linked to PCDH15 | PCDH15:c.158-1G>A, ; PCDH15:p.Glu1113Ter; PCDH15:c.5601_5603delAAC, ; PCDH15:c.16delT, p.Tyr6IlefsTer6; PCDH15:c.3101G>A, p.Arg1034His; PCDH15:c.5257C>A, p.Pro1706Thr; PCDH15:c.3832C>A, |
5 diseases linked to PCDH15 | Usher syndrome type 1; Non-syndromic genetic deafness; Meniere Disease; Usher syndrome; Atypical hemolytic uremic syndrome |