The nuclear envelope is a membrane system which surrounds the nucleoplasm of eukaryotic cells. It is composed of the nuclear lamina, nuclear pore complexes and two nuclear membranes. The space between the two membranes is called the nuclear intermembrane space.
Kohlschuetter-Toenz syndrome (KTZS) [MIM:226750]: An autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound intellectual disability, never acquire speech, and become bedridden early in life. {Experimental EvidencePubMed:22424600, Experimental EvidencePubMed:22482807, Experimental EvidencePubMed:25565929, Experimental EvidencePubMed:29153277}. Note=The disease is caused by variants affecting the gene represented in this entry.
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory