NRTN
Function
Growth factor that supports the survival of sympathetic neurons in culture (PubMed:8945474). May regulate the development and maintenance of the CNS (PubMed:8945474). Involved in the development of the neural crest (PubMed:15242795). Might control the size of non-neuronal cell population such as haemopoietic cells (PubMed:8945474). Acts by binding to its coreceptor, GFRA2, leading to autophosphorylation and activation of the RET receptor (PubMed:10829012, PubMed:29414779, PubMed:31535977). Heparan sulfate-binding is required for signaling (PubMed:29414779).
Involvement in disease
Genetic variations in NRTN may contribute to Hirschsprung disease, in association with mutations of RET gene, and possibly mutations in other loci. Hirschsprung disease is a disorder of neural crest development is characterized by the absence of intramural ganglion cells in the hindgut, often resulting in intestinal obstruction.
Sequence Similarities
Belongs to the TGF-beta family. GDNF subfamily.
Cellular localization
- Secreted
Alternative names
Neurturin, NRTN