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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 AGBL2 gene was identified in a UDN participant with heart abnormalities, global developmental delay, brain MRI abnormality, and seizures (infantile spasms) that are now well-treated and controlled (read full description).
Feb 23, 2023
AGBL carboxypeptidase 2
AGBL2 is responsible for mediating deglutamylation of tubulin and non-tubulin target proteins and catalyzing the removal of polyglutamate side chains on the gamma-carboxyl group of glutamate residues within the C-terminal tail of tubulin protein. Additionally, it cleaves tubulin long-side-chains and catalyzes the removal of polyglutamate residues from the carboxy-terminus of non-tubulin proteins (Tort et al., 2014).
NCBI Gene: 79841
A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!