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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 NUBPL gene was identified in a female, age 18 with difficulty walking (gait ataxia), trembling during precise movement (intention tremor), and learning disabilities (read full description).
Aug 19, 2021
nucleotide binding protein like
The NUBPL gene encodes for an Fe/S protein which is involved in the assembly of respiratory complex I by aiding in the transfer of Fe/S into the complex I subunits (Sheftel et al., 2009).
Changes in this gene were identified in a UDN participant.
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