On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the ANKRD17 gene was identified in a UDN participant with chronic high blood pressure (hypertension) and autonomic nervous system dysfunction (dysautonomia)

Date of Report

Apr 03, 2023

Full Name

Ankyrin Repeat Domain 17

Chromosome 4 (4q13.3)


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).

Database Links

GeneCards: ANKRD17

NCBI Gene: 26057

OMIM: 615929

UniProtKB/Swiss-Prot: O75179

Clinical Significance

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.

Gene ANKRD17
Inheritance Pattern Unknown
Position (hg19) chr4:g.74014689G>A
Transcript NM_032217.4
DNA Change c.1408C>T
Protein Change p.Pro470Ser
Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!