Ankyrin repeat domain-containing protein 17 (ANKRD17)

Ankyrin repeat domain-containing protein 17 (ANKRD17) is a ubiquitously expressed human protein characterized by the presence of two major clusters of ankyrin repeats, structural motifs facilitating protein-protein interactions, and a carboxy-terminal KH domain associated with nucleic acid binding[1][2][3][7]. ANKRD17 plays roles in cell cycle progression (especially S-phase entry), DNA replication, and both anti-viral and anti-bacterial innate immune signaling (regulation of the RIG-I, NOD1, and NOD2 pathways)[1][3][5][7]. Mutations in ANKRD17, particularly heterozygous loss-of-function variants, cause Chopra-Amiel-Gordon syndrome, a neurodevelopmental disorder featuring intellectual disability, developmental and speech delay, epilepsy, and immune dysfunction[1][3]. The gene is highly constrained against loss-of-function mutations in humans, indicating its essential biological role[1][3]. Despite being a well-characterized mediator of protein interactions and immune signaling, ANKRD17 is not currently established as a therapeutic target, and there are no known drugs that directly modulate its function.

Other names

Ankyrin repeat domain 17ANKRD17GTARKIAA0697FLJ22206NY-BR-16MASK2Gene trap ankyrin repeat proteinSerologically defined breast cancer antigen NY-BR-16CAGS