GDNF Recombinant Protein

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. Mutations in this gene may be associated with Hirschsprung disease and Tourette syndrome. 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: 5p13.1-p12

Cellular Component: extracellular region

Molecular Function: protein homodimerization activity; growth factor activity; receptor binding

Biological Process: nervous system development; axon guidance; positive regulation of dopamine secretion; peristalsis; adult locomotory behavior; mRNA stabilization; positive regulation of monooxygenase activity; regulation of dopamine uptake; signal transduction; enteric nervous system development; sympathetic nervous system development; regulation of gene expression; ureteric bud branching; induction of an organ; positive regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter; postganglionic parasympathetic nervous system development; negative regulation of neuron apoptosis; postsynaptic membrane organization; positive regulation of cell differentiation; neural crest cell migration; metanephros development; neurite development; negative regulation of apoptosis

Disease: Hirschsprung Disease, Susceptibility To, 3; Central Hypoventilation Syndrome, Congenital; Pheochromocytoma