NUP88

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

Nucleoporin 88

Component of nuclear pore complex.

Mitotic cell cycleIEA:Ensembl
mRNA export from nucleusManual Assertion Based On ExperimentIBA:GO_Central
Nucleocytoplasmic transport1 PublicationIC:ComplexPortal
Protein import into nucleusManual Assertion Based On ExperimentIBA:GO_Central
Ribosomal large subunit export from nucleusManual Assertion Based On ExperimentIBA:GO_Central
Ribosomal small subunit export from nucleusManual Assertion Based On ExperimentIBA:GO_Central

Nucleus, nuclear pore complex

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.