NPTX1
Chr 17neuronal pentraxin 1
Also known as: NP1, SCA50
Neuronal pentraxin 1 mediates uptake of synaptic material during synapse remodeling and synaptic clustering of AMPA glutamate receptors at excitatory synapses. Mutations cause spinocerebellar ataxia 50 with autosomal dominant inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.48), suggesting intolerance to complete protein loss.
Limited evidence — not for standalone diagnostic reporting
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NPTX1 · 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 →External Resources
Links to major genomics databases and tools