Nuclear speckle splicing regulatory protein 1 is a protein that in humans is encoded by the NSRP1 gene.[5][6]
AliasesNSRP1, CCDC55, HSPC095, NSrp70, nuclear speckle splicing regulatory protein 1 Quick facts Identifiers, Aliases ...
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NSRP1 is located within nuclear speckles.[7] Speckles are dynamic membrane-less organelles within the nucleus and are rich in RNA splicing factors.[8] NSRP1 interacts with other splicing factors including SRSF1 and SRSF2 and modulates pre-mRNA splicing.[7][9] Knockout of the mouse ortholog Nsrp1 resulted in early embryonic lethality.[7]
Humans with biallelic pathogenic variants in NSRP1 have an autosomal recessive condition called neurodevelopmental disorder with spasticity, seizures, and brain abnormalities (NEDSSBA, MIM 620001).[10][11] 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),[10] and thus NEDSSBA should be considered a CP disease gene.
