Glial Cell Line-Derived Neurotrophic Factor (GDNF) ELISA Kit for Mouse

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Homozygous knockout mice for this gene exhibit defects in kidney development and neonatal death. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]

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; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 15|15 A1

Cellular Component: extracellular region; extracellular space; receptor complex

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

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