Ankyrin repeat and sterile alpha motif domain-containing protein 3 (ANKS3)

ANKS3 encodes a scaffold protein characterized by ankyrin repeats and a sterile alpha motif (SAM) domain. This protein is predicted to function in the cytoplasm, localizing to cilia and potentially regulating cell polarity and ciliary movement. It is involved in complex formation with other nephronophthisis (NPH) proteins—such as ANKS6/NPHP16, Bicc1, and HIF1AN—and is essential for kidney development, functionality, and left–right patterning. Depletion or mutation of ANKS3 disrupts central metabolic pathways and nucleoside balance, leading to DNA damage responses and cell viability reduction; mutations in ANKS3 are causative of nephronophthisis and related ciliopathies as well as laterality defects in humans. While ANKS3 is not yet a direct drug target, it is a critical node in protein interaction networks underlying important developmental processes and diseases.

Other names

ANKS3NPHP16