General Information:

Id: 13,395 (click here to show other Interactions for entry)
Diseases: Ciliopathy
Homo sapiens
article
Reference: Lu H et al.(2017) Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease Nat Genet 49: 1025-1034 [PMID: 28530676]

Interaction Information:

Comment In control human fibroblasts we detected PC1 at the basal body and along the axoneme, whereas there was a reduction in PC1 accumulation along the ciliary membrane of fibroblasts from individual B155. PC2 ciliary membrane localization was similarly affected in B155 fibroblasts. This suggests that in the absence of correct DZIP1L function, the ciliary membrane distribution of PC1 and PC2 is compromised, possibly reflecting a defect in the barrier function of the transition zone.
Formal Description
Interaction-ID: 126187

gene/protein

DZIP1L

affects_activity of

gene/protein

PKD2