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MGP002133

UniProt Annotations

Entry Information
Gene Nameneurturin
Protein EntryNRTN_HUMAN
UniProt IDQ99748
SpeciesHuman
Comments
Comment typeDescription
DiseaseNote=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.
FunctionSupports 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.
SimilarityBelongs to the TGF-beta family. GDNF subfamily. {ECO:0000305}.
Subcellular LocationSecreted.
SubunitHomodimer; disulfide-linked.
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