NPTX2

Function

This gene encodes a member of the family of neuronal pentraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells.[6]

Clinical significance

Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000106236 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000059991 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Hsu YC, Perin MS (Feb 1996). "Human neuronal pentraxin II (NPTX2): conservation, genomic structure, and chromosomal localization". Genomics. 28 (2): 220–7. doi:10.1006/geno.1995.1134. PMID 8530029.
  6. "Entrez Gene: NPTX2 neuronal pentraxin II".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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