DZIP1L
Function
Involved in primary cilium formation (PubMed:19852954, PubMed:28530676). Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane (PubMed:28530676).
Involvement in disease
Polycystic kidney disease 5
PKD5
A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts may also occur in other organs, particularly the liver. PKD5 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the DZIP C2H2-type zinc-finger protein family.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cilium basal body
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Centriole
- Localizes to centrioles and to the distal ends of basal bodies (PubMed:28530676).
Alternative names
Cilium assembly protein DZIP1L, DAZ-interacting zinc finger protein 1-like, DZIP1L