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Genetics Home Reference: your guide to understanding genetic conditions
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GDNF

The information on this page was automatically extracted from online scientific databases.

What is the official name of the GDNF gene?

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.

What is the normal function of the GDNF gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2668):

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]

From UniProt (http://www.uniprot.org/uniprot/P39905):

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

How are changes in the GDNF gene related to health conditions?

Genetics Home Reference provides information about Hirschsprung disease, which is associated with changes in the GDNF gene.
UniProt (http://www.uniprot.org/uniprot/P39905) provides the following information about the GDNF gene's known or predicted involvement in human 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. The disease may be caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2668) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the GDNF gene.
  • Congenital central hypoventilation
  • Hirschsprung disease 3
  • Pheochromocytoma
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the GDNF gene and its association with health conditions.
OMIM
Number
Title

Where is the GDNF gene located?

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.

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.

Where can I find additional information about GDNF?

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.

What other names do people use for the GDNF gene or gene products?

  • ATF1
  • ATF2
  • HFB1-GDNF
  • HSCR3

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding GDNF?

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.

 
Published: December 22, 2014