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NEDBASS
Chr 3ARprotein tyrosine phosphatase non-receptor type 23
Also known as: HD-PTP, HDPTP, NEDBASS, PTP-TD14
The protein is a non-receptor protein-tyrosine phosphatase that regulates small nuclear ribonucleoprotein assembly and pre-mRNA splicing through modification of the survival motor neuron (SMN) complex, and also functions in ciliogenesis and endosomal sorting pathways. Mutations cause a neurodevelopmental disorder with structural brain anomalies that may include seizures and spasticity, inherited in an autosomal recessive pattern.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDBASS?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEDBASS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools