Nuclear pore complex protein Nup88
Function
Component of nuclear pore complex.
Involvement in disease
Fetal akinesia deformation sequence 4
FADS4
A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS4 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry. Disease mechanism likely includes impaired formation of the neuromuscular junction. NUP88 silencing in vitro results in reduced levels of rapsyn, a key player in clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. Decreased rapsyn levels have also been observed in a patient muscle biopsy.
Tissue Specificity
Ubiquitous.
Cellular localization
- Nucleus
- Nuclear pore complex
Alternative names
Nuclear pore complex protein Nup88, 88 kDa nucleoporin, Nucleoporin Nup88, NUP88