DISEASES

Disease-gene associations mined from literature

Literature associating WRNIP1 and Barre-Lieou syndrome

WRNIP1 [ENSP00000370150]

ATPase WRNIP1; Functions as a modulator of initiation or reinitiation events during DNA polymerase delta-mediated DNA synthesis. In the presence of ATP, stimulation of DNA polymerase delta-mediated DNA synthesis is decreased. Plays also a role in the innate immune defense against viruses. Stabilizes the RIG-I/DDX58 dsRNA interaction and promotes RIG- I/DDX58 'Lys-63'-linked polyubiquitination. In turn, RIG-I/DDX58 transmits the signal through mitochondrial MAVS.

Synonyms:  WRNIP1,  WRNIP1p,  hWRNIP1,  Q96S55,  Q96S55p ...

Linkouts:  STRING  Pharos  UniProt  OMIM