Disease-gene associations mined from literature

Literature associating PCDH8 and early infantile epileptic encephalopathy 9

PCDH8 [ENSP00000367177]

Protocadherin 8; Calcium-dependent cell-adhesion protein (By similarity). May play a role in activity-induced synaptic reorganization underlying long term memory (By similarity). Could be involved in CDH2 internalization through TAOK2/p38 MAPK pathway. In hippocampal neurons, may play a role in the down-regulation of dendritic spines, maybe through its action on CDH2 endocytosis (By similarity); Non-clustered protocadherins

Synonyms:  PCDH8,  PCDH8p,  hPCDH8,  A0A024QZ94,  O95206 ...

Linkouts:  STRING  Pharos  UniProt  OMIM