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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 this gene was identified in a female, age 1 with low T-cell lymphocyte levels (T-cell lymphopenia) and immune system abnormalities (decreased IgG level in blood) (read full description).
Dec 19, 2019
replication protein A1
Replication protein A (RPA) is important for DNA replication, repair, and recombination. It is composed of three subunits termed RPA1, RPA2, and RPA3. The RPA1 subunit is responsible for high affinity single strand DNA binding (Haring et al., 2008).
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!