NPTX1_HUMAN
Function
May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses.
Involvement in disease
Spinocerebellar ataxia 50
SCA50
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA50 is an autosomal dominant form characterized by cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Secreted
- Cytoplasmic vesicle
- Secretory vesicle
- Endoplasmic reticulum
Alternative names
Neuronal pentraxin-1, NP1, Neuronal pentraxin I, NP-I, NPTX1