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On this page, you will find information about a genetic change that was identified in a UDN participant.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
Changes in this gene were identified in a male, age 4 with seizures, involuntary muscle contractions (dystonia), global developmental delay, and upbeat nystagmus (read full description).
Oct 01, 2020
Also known as phosphatidylinositol synthase, this protein is a member of the CDP-alcohol phosphatidyl transferase class-I family, and is an integral membrane protein located on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. It functions to catalyze the biosynthesis of phosphatidylinositol (Lykidis et al., 1997).
Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!