Deletion of ADP ribosylation factor-like GTPase 13B leads to kidney cysts
The gene for ADP ribosylation factor–like GTPase 13B (Arl13b) encodes a small GTPase
essential for cilia biogenesis in multiple model organisms. Inactivation of arl13b in zebrafish
leads to a number of phenotypes indicative of defective cilia, including cystic kidneys. In
mouse, null mutation in Arl13b results in severe patterning defects in the neural tube and
defective Hedgehog signaling. Human mutations of ARL13B lead to Joubert syndrome, a
ciliopathy. However, patients with mutated ARL13B do not develop kidney cysts. To …
essential for cilia biogenesis in multiple model organisms. Inactivation of arl13b in zebrafish
leads to a number of phenotypes indicative of defective cilia, including cystic kidneys. In
mouse, null mutation in Arl13b results in severe patterning defects in the neural tube and
defective Hedgehog signaling. Human mutations of ARL13B lead to Joubert syndrome, a
ciliopathy. However, patients with mutated ARL13B do not develop kidney cysts. To …