- Source: CCDC55
Nuclear speckle splicing regulatory protein 1 is a protein that in humans is encoded by the NSRP1 gene.
NSRP1 is located within nuclear speckles. Speckles are dynamic membrane-less organelles within the nucleus and are rich in RNA splicing factors. NSRP1 interacts with other splicing factors including SRSF1 and SRSF2 and modulates pre-mRNA splicing. Knockout of the mouse ortholog Nsrp1 resulted in early embryonic lethality.
Humans with biallelic pathogenic variants in NSRP1 have an autosomal recessive condition called neurodevelopmental disorder with spasticity, seizures, and brain abnormalities (NEDSSBA, MIM 620001). Affected individuals have delayed developmental milestones, axial hypotonia, appendicular spasticity, epilepsy, and often microcephaly. Brain abnormalities including under-opercularization, cerebellar atrophy, and thinning of the corpus callosum can be seen. Patients with NEDSSBA often have a clinical diagnosis of spastic cerebral palsy (CP), and thus NEDSSBA should be considered a CP disease gene.
References
External links
Human NSRP1 genome location and NSRP1 gene details page in the UCSC Genome Browser.
