Details for Gene PCDH15

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 OLI266; OLI454; OLI1370; OLI1038; OLI259; OLI267; OLI260; OLI265
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; Atypical hemolytic uremic syndrome; Usher syndrome

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