GDNF

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]

Full Name

Glial Cell Derived Neurotrophic Factor

Function

Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.

Biological Process

Adult locomotory behavior Source: BHF-UCL
Branching involved in ureteric bud morphogenesis Source: UniProtKB
Commissural neuron axon guidance Source: ARUK-UCL
Dorsal spinal cord development Source: ARUK-UCL
Embryonic organ development Source: ARUK-UCL
Enteric nervous system development Source: UniProtKB
Mesenchymal to epithelial transition involved in metanephros morphogenesis Source: Ensembl
Metanephros development Source: UniProtKB
mRNA stabilization Source: BHF-UCL
Negative regulation of apoptotic process Source: ProtInc
Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: UniProtKB
Negative regulation of neuron apoptotic process Source: UniProtKB
Nervous system development Source: ARUK-UCL
Neural crest cell migration Source: MGI
Neuron projection development Source: MGI
Organ induction Source: Ensembl
Peripheral nervous system development Source: GO_Central
Peristalsis Source: UniProtKB
Positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
Positive regulation of cell differentiation Source: MGI
Positive regulation of cell population proliferation Source: MGI
Positive regulation of dopamine secretion Source: BHF-UCL
Positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis Source: Ensembl
Positive regulation of monooxygenase activity Source: BHF-UCL
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Positive regulation of ureteric bud formation Source: UniProtKB
Postganglionic parasympathetic fiber development Source: UniProtKB
Postsynaptic membrane organization Source: Ensembl
Regulation of dopamine uptake involved in synaptic transmission Source: UniProtKB
Regulation of gene expression Source: MGI
Regulation of morphogenesis of a branching structure Source: UniProtKB
Regulation of semaphorin-plexin signaling pathway Source: ARUK-UCL
Regulation of stem cell differentiation Source: ParkinsonsUK-UCL
Signal transduction Source: ProtInc
Sympathetic nervous system development Source: UniProtKB
Ureteric bud formation Source: Ensembl

Cellular Location

Secreted

Involvement in disease

Hirschsprung disease 3 (HSCR3):
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
Congenital central hypoventilation syndrome (CCHS):
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.
Pheochromocytoma (PCC):
A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.