PUS3
Function
Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs.
Involvement in disease
Neurodevelopmental disorder with microcephaly and gray sclerae
NEDMIGS
An autosomal recessive disorder characterized by global developmental delay, hypotonia, profoundly impaired intellectual development with poor or absent language, mild microcephaly, abnormal visual fixation, and seizures in most patients. Affected individuals also have gray sclerae.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the tRNA pseudouridine synthase TruA family.
Cellular localization
- Nucleus
Alternative names
FKSG32, PUS3, tRNA pseudouridine(38/39) synthase, tRNA pseudouridine synthase 3, tRNA pseudouridylate synthase 3, tRNA-uridine isomerase 3