General Information:

Id: 7,124 (click here to show other Interactions for entry)
Diseases: Nephronophthisis 14 - [OMIM]
Mus musculus
Reference: [PMID: 27727273]

Interaction Information:

Comment Zfp423 mutations result in ciliopathy-related phenotypes, including agenesis of the cerebellar vermis in mice and Joubert syndrome (JBTS19) and nephronophthisis (NPHP14) in humans. Unlike most ciliopathy genes, Zfp423 encodes a nuclear protein and its developmental expression is complex, leading to alternative proposals for cellular mechanisms. The study shows that Zfp423 is expressed by cerebellar granule cell precursors, that loss of Zfp423 in these precursors leads to cell-intrinsic reduction in proliferation, loss of response to Shh, and primary cilia abnormalities that include diminished frequency of both Smoothened and IFT88 localization.
Formal Description
Interaction-ID: 70188



affects_activity of