NPTX1

Chr 17AD

neuronal pentraxin 1

Also known as: NP1, SCA50

NCBI Gene: 4884 ENSG00000171246 UniProt: Q15818 OMIM: 602367

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spinocerebellar ataxia 50MIM #620158

Clinical highlights

Gene-disease validity (ClinGen)

autosomal dominant cerebellar ataxia · ADLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

Mechanism· predicted