ANKRD20A4
Description
The ANKRD20A4 gene, located on chromosome 17, encodes a protein with ankyrin repeat domains. These domains are involved in protein-protein interactions, suggesting a role in various cellular processes. While its precise function remains under investigation, studies indicate potential involvement in neurodevelopment and cellular signaling pathways. The gene's mutations have been linked to certain genetic disorders, highlighting its importance in maintaining normal physiological function.
Associated Diseases
Did you know?
Mutations in the ANKRD20A4 gene have been associated with a rare syndrome characterized by severe intellectual disability, epilepsy, and distinctive facial features.
