DISEASES

Disease-gene associations mined from literature

Literature on PDZRN3

PDZRN3 [ENSP00000263666]

E3 ubiquitin-protein ligase PDZRN3; E3 ubiquitin-protein ligase. Plays an important role in regulating the surface level of MUSK on myotubes. Mediates the ubiquitination of MUSK, promoting its endocytosis and lysosomal degradation. Might contribute to terminal myogenic differentiation.

Synonyms:  PDZRN3,  PDZRN3p,  hPDZRN3,  B7ZAG0,  C9JWE6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM