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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 MPEG1 gene was identified in a female, age 25 with early-onset hearing loss, frequent fevers and flares of pain with blurred vision and vomiting, systemic itching, delayed gastric emptying (gastroparesis), recurrent infections, and reduced sweating (read full description).
Aug 19, 2021
macrophage expressed 1
The MPEG1 gene encodes for a pore-forming protein which is part of the ‘Membrane Attack Complex/Perforin’ (MACPF) superfamily. The protein acts as a pore-forming immune effector against intracellular and extracellular pathogens (McCormack et al., 2017; Merselis et al., 2020; Bayly-Jones et al., 2020).
A change in this gene was identified in a UDN participant.
Interested in learning more about this gene or sharing what you know? Contact us!