If any of these participants sound like you or someone you know, please contact us!Contact Us
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 this gene was identified in a male, age 16 with intellectual disability, facial differences, skull differences (metopic craniosynostosis), and low muscle tone (hypotonia) (read full description).
Oct 07, 2019
heterogeneous nuclear ribonucleoprotein K
The HNRNPK gene codes for heterogeneous nuclear ribonucleoprotein K, which helps regulate transcription, specifically by influencing pre-mRNA processing, metabolism, and transport. In addition, it plays an important role in response to DNA damage and is a cofactor for p53 (Moumen et al., 2005, UniProtKB).
Interested in learning more about this gene or sharing what you know? Contact us!