[5][6] This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions.

Studies in mice suggest that this protein is involved in liver development.

Two transcript variants encoding different isoforms have been found for this gene.

[6] De novo mutations to ANKRD17 are known to cause Chopra-Amiel-Gordon syndrome.

[7] Genetic analysis of individuals with CAGS suggests that the disorder follows the haploinsufficiency model of gene action.