Nucleoporin p54
Domain
Contains FG repeats.
Function
Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane.
Involvement in disease
Dystonia 37, early-onset, with striatal lesions
DYT37
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT37 is an autosomal recessive form characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life. Affected individuals show delayed motor development and may have impaired intellectual development.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
O-glycosylated.
Sequence Similarities
Belongs to the NUP54 family.
Cellular localization
- Nucleus
- Nuclear pore complex
- Nucleus membrane
- Peripheral membrane protein
- Cytoplasmic side
- Nucleus membrane
- Peripheral membrane protein
- Nucleoplasmic side
- Biased towards cytoplasmic side. Central region of the nuclear pore complex, within the transporter.
Alternative names
Nucleoporin p54, 54 kDa nucleoporin, NUP54