GDNF Active Protein

GDNF: Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake. Defects in GDNF may be a cause of Hirschsprung disease type 3 (HSCR3). In association with mutations of RET gene, defects in GDNF may be 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. Defects in GDNF are a cause of congenital central hypoventilation syndrome (CCHS); also known as congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. Belongs to the TGF-beta family. GDNF subfamily. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted, signal peptide; Secreted

Cellular Component: extracellular space; extracellular region; receptor complex

Molecular Function: glial cell line-derived neurotrophic factor receptor binding; protein homodimerization activity; growth factor activity; transforming growth factor beta receptor binding

Biological Process: peristalsis; enteric nervous system development; neuron differentiation; sympathetic nervous system development; ureteric bud development; transforming growth factor beta receptor signaling pathway; induction of an organ; positive regulation of cell proliferation; response to wounding; postganglionic parasympathetic nervous system development; negative regulation of neuron apoptosis; postsynaptic membrane organization; neural crest cell migration; neurite development; nervous system development; mRNA stabilization; positive regulation of monooxygenase activity; regulation of dopamine uptake; peripheral nervous system development; cell proliferation; ureteric bud branching; regulation of gene expression; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell differentiation; metanephros development; transmembrane receptor protein tyrosine kinase signaling pathway