Apr 03, 2023
Ankyrin Repeat Domain 17
ANKRD17 interacts with CCNE1/CDK2 and positively regulates cell cycle progression (Deng et al., 2009). Heterozygous loss of function variants in the ANKRD17 gene have been implicated as the cause of Chopra-Amiel-Gordon Syndrome, a condition characterized by intellectual disability, speech delay, and dymorphism (Chopra et al., 2021).
ANKRD17 has also been shown to interact with RIGI-like receptiors (RLRs) that sense viral RNAs and trigger immune responses (Wang et al., 2012). Additionally, ANKRD17 interacts with NOD2- and NOD1- mediated responses to bacteria suggesting it plays a role in antibacterial immune pathways (Menning and Kufer, 2013).
A heterozygous change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
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