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.
The membrane surrounding the nucleus. This term is used when it is not known if the protein is found in or associated with the inner or outer nuclear membrane.
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (NEDBAVC) [MIM:618731]: An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, impaired intellectual development, hypotonia, brain anomalies including cortical volume loss, corpus callosum dysgenesis and cerebellar hypoplasia, and variable dysmorphic features. Patients may have platyspondyly, scoliosis, and cardiac anomalies. {Experimental EvidencePubMed:26539891, Experimental EvidencePubMed:31256877}. Note=The disease may be caused by variants affecting the gene represented in this entry. 46,XY sex reversal 11 (SRXY11) [MIM:273250]: An autosomal dominant disorder of sex development. Affected individuals have a 46,XY karyotype and a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity. Approximately half of patients present with micropenis and bilateral or unilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia. {Experimental EvidencePubMed:31287541, Experimental EvidencePubMed:31337883}. Note=The disease is caused by variants affecting the gene represented in this entry.
Aurora kinase A-interacting protein (AURKA-interacting protein) (28S ribosomal protein S38, mitochondrial) (MRP-S38) (Mitochondrial small ribosomal subunit protein mS38)
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory