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Rabbit Anti-GDNF /FITC Conjugated antibody
background:
Neurobiology. Neurotrophins. Neuroscience.
This gene encodes a highly conserved neurotrophic factor. The recombinant form of this protein 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. The encoded protein is processed to a mature secreted form that exists as a homodimer. The mature form of the protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. In addition to the transcript encoding GDNF, two additional alternative transcripts encoding distinct proteins, referred to as astrocyte-derived trophic factors, have also been described. Mutations in this gene may be associated with Hirschsprung disease.
Function:
Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.
Subunit:
Homodimer; disulfide-linked.
Subcellular Location:
Secreted.
Tissue Specificity:
In the brain, predominantly expressed in the striatum with highest levels in the caudate and lowest in the putamen. Isoform 2 is absent from most tissues except for low levels in intestine and kidney. Highest expression of isoform 3 is found in pancreatic islets. Isoform 5 is expressed at very low levels in putamen, nucleus accumbens, prefrontal cortex, amygdala, hypothalamus and intestine. Isoform 3 is up-regulated in the middle temporal gyrus of Alzheimer disease patients while isoform 2 shows no change.
DISEASE:
Defects in GDNF may be a cause of Hirschsprung disease type 3 (HSCR3) [MIM:613711]. 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) [MIM:209176]; 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.
Similarity:
Belongs to the TGF-beta family. GDNF subfamily.
Database links:
Entrez Gene: 2668 Human
Entrez Gene: 14573 Mouse
Entrez Gene: 25453 Rat
Omim: 600837 Human
SwissProt: P39905 Human
SwissProt: P48540 Mouse
SwissProt: Q07731 Rat
Unigene: 248114 Human
Unigene: 4679 Mouse
Unigene: 53970 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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