ANKRD17
Description
The ANKRD17 (ankyrin repeat domain 17) is a protein-coding gene located on chromosome 4.
ANKRD17 is a human gene encoding a protein with ankyrin repeats, which are involved in protein-protein interactions. Studies in mice suggest a role for ANKRD17 in liver development. Two transcript variants encoding different isoforms have been identified for this gene. De novo mutations in ANKRD17 are associated with Chopra-Amiel-Gordon syndrome, a disorder that follows the haploinsufficiency model of gene action.
ANKRD17 plays a crucial role in cell cycle regulation and DNA maintenance. It is involved in the innate immune response, specifically in defending against viruses by enhancing the signaling pathways of DDX58 and IFIH1, which recognize viral dsRNA. ANKRD17 also participates in the innate antibacterial immune response by contributing to NOD2- and NOD1-mediated responses to bacteria. It is a target of enterovirus 71, the primary cause of hand, foot, and mouth disease. Additionally, ANKRD17 is suggested to be involved in the formation and maintenance of blood vessels.
ANKRD17 is also known as CAGS, GTAR, MASK2, NY-BR-16.
