DISEASES

Disease-gene associations mined from literature

Literature associating PDZD7 and Usher syndrome type 2

PDZD7 [ENSP00000480489]

PDZ domain-containing protein 7; In cochlear developing hair cells, essential in organizing the USH2 complex at stereocilia ankle links. Blocks inhibition of adenylate cyclase activity mediated by ADGRV1.

Synonyms:  PDZD7,  PDZD7p,  hPDZD7,  A0A2R8Y4R0,  A0A2R8Y6B4 ...

Linkouts:  STRING  Pharos  UniProt