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On this page, you will find information about genetic changes that were 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 female, age 3 with pontocerebellar hypoplasia, type 2D (read full description).
Nov 09, 2017
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
The SEPSECS gene codes for an enzyme important in the formation of a transfer RNA (tRNA). This tRNA is involved in the production of a protein building block called selenocysteine (MedlinePlus Genetics).
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