Summary
Performance
Immunogen
Application
Background
neurturin(NRTN) Homo sapiens This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease. [provided by RefSeq, Aug 2016],disease:Defects in NRTN are a cause of Hirschsprung disease (HSCR) [MIM:142623]. In association with mutations of RET gene, and possibly with other loci, defects in NRTN are involved in Hirschsprung disease. This genetic disorder of neural crest development is characterized by the absence of intramural ganglion cells in the hindgut, often resulting in intestinal obstruction.,function:Supports the survival of sympathetic neurons in culture. May regulate the development and maintenance of the CNS. Might control the size of non-neuronal cell population such as haemopoietic cells.,similarity:Belongs to the TGF-beta family. GDNF subfamily.,subunit:Homodimer; disulfide-linked.,
Research Area
Neurology process; Growth and Development; Neurotrophins; Neuroscience; Development
