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The official name of this gene is “glial cell derived neurotrophic factor.”
GDNF is the gene's official symbol. The GDNF gene is also known by other names, listed below.
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. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene may be associated with Hirschsprung disease. [provided by RefSeq, Jun 2010]
Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.
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. The disease may be caused by mutations affecting the gene represented in this entry.
|613711 (http://omim.org/entry/613711)||HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3|
|209880 (http://omim.org/entry/209880)||CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL|
|171300 (http://omim.org/entry/171300)||PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO|
|600837 (http://omim.org/entry/600837)||GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR|
Cytogenetic Location: 5p13.1-p12
Molecular Location on chromosome 5: base pairs 37,812,676 to 37,839,679
The GDNF gene is located on the short (p) arm of chromosome 5 between positions 13.1 and 12.
More precisely, the GDNF gene is located from base pair 37,812,676 to base pair 37,839,679 on chromosome 5.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about GDNF helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acute ; apoptosis ; chronic ; congenital ; constipation ; deficiency ; differentiation ; distention ; dopamine ; enteric ; gene ; hypoventilation ; intestinal obstruction ; intestine ; isoforms ; lesion ; ligand ; motor ; neonatal ; neural crest ; obstruction ; pheochromocytoma ; protein ; protooncogene ; respiration ; stool ; syndrome ; transcript
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.