Cilium assembly protein DZIP1L (DZIP1L)

DZIP1L (Cilium assembly protein DZIP1L) is a zinc finger and coiled-coil domain containing protein that localizes to centrioles, basal bodies, and the ciliary transition zone, playing an essential role in the formation and architecture of primary cilia[1][2][4][5]. Mutations in DZIP1L are a genetic cause of autosomal recessive polycystic kidney disease (ARPKD), affecting the proper distribution and function of PKD proteins (polycystin-1 and polycystin-2) at the ciliary membrane. DZIP1L modulates the gating function of the transition zone/transition fibers, which controls entry of soluble and membrane proteins into cilia[1][2][5]. Deficiency leads to severe kidney phenotypes including polycystic changes, hypertension, and renal failure[1]. DZIP1L does not currently have established pharmacological modulators or known drug interactions, but its gene and protein serve as important clinical biomarkers for genetic diagnosis and mechanistic investigation of ARPKD and other ciliopathies[1][2][5].

Other names

DAZ interacting zinc finger protein 1 likeDZIP1LFLJ32844DZIP2DAZ-interacting zinc finger protein 1-likePKD5Cilium assembly protein DZIP1LDAZ interacting protein 1-likeDAZ-interacting protein 1-like proteinZinc finger protein DZIP1L

Not applicable (no drugs directly targeting DZIP1L have mechanism of action described in the literature).