PSPN

Description

The PSPN (persephin) is a protein-coding gene located on chromosome 19.

Persephin is a neurotrophic factor belonging to the glial cell line-derived neurotrophic factor (GDNF) family. It shares around 40% amino acid sequence similarity with GDNF and neurturin, other members of the GDNF family. While less potent than GDNF and neurturin, persephin supports the survival and differentiation of tyrosine hydroxylase-positive neurons. Persephin mRNA levels are lower in developing neurons compared to other neurotrophic factors, but are relatively higher in embryonic neurons. Like other GDNF family ligands, persephin utilizes a receptor complex consisting of the tyrosine kinase signaling component Ret and a glycosylphosphatidylinsitol (GPI)-anchored receptor (GFRα) unit. Specifically, persephin binds to GFRα4. Persephin acts on neurons in both the central nervous system (CNS) and peripheral nervous system (PNS), and also functions as a renal ramogen. Unlike other GDNF family ligands, persephin has only one RXXR cleavage site, suggesting the formation of a single functional peptide length. Persephin holds therapeutic potential for treating neurodegenerative diseases, such as Parkinson's disease and other motor neuron disorders.

Persephin (PSPN) promotes the survival and development of dopamine-producing neurons in the midbrain and motor neurons.

PSPN is also known as PSP.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing