NSRP1 Chromosome 17
Nuclear speckle splicing regulatory protein 1
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What This Gene Does
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]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000126653
Associated Conditions (7)
Microcephaly
Seizure
Spasticity
Severe global developmental delay
Neurodevelopmental disorder with spasticity
seizures
and brain abnormalities
Key Variants
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS777452903 | Health Risk | Likely pathogenic | — |
| RS1485203990 | Health Risk | Pathogenic | Microcephaly, Seizure, Spasticity |
| RS2143011578 | Health Risk | Pathogenic | Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities |
| RS2143011593 | Health Risk | Pathogenic | Microcephaly, Seizure, Spasticity |