Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

NEDSSBA

Chr 17AR

nuclear speckle splicing regulatory protein 1

Also known as: CCDC55, HSPC095, NEDSSBA, NSrp70

NCBI Gene: 84081 OMIM: 620001

The protein enables mRNA binding and regulates alternative mRNA splicing via the spliceosome as part of ribonucleoprotein complexes in nuclear speckles. Biallelic mutations cause a neurodevelopmental disorder with spasticity, seizures, and brain abnormalities with autosomal recessive inheritance. This condition primarily affects the central nervous system with both developmental and epileptic manifestations.

OMIM ResearchSummary from RefSeq, OMIM

Enables mRNA binding activity. Involved in developmental process and regulation of alternative mRNA splicing, via spliceosome. Located in nuclear speck. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…