Candidate Genes Diabetic Retinopathy

Glial cell derived neurotrophic factor

Official Symbol
GDNF
Alternative Names
ATF
hGDNF
OTTHUMP00000116024
OTTHUMP00000116025
OTTHUMP00000221304
OTTHUMP00000221305
OTTHUMP00000221306
astrocyte-derived trophic factor
glial cell line derived neurotrophic factor
ATF1, ATF2, HFB1-GDNF, HSCR3
Description
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
Location
5p13.1-p12
Map
Chr 17
Start: 37,812,779 bp from pter
End: 37,839,788 bp from pter
Size: 27,010 bases
Orientation: minus strand
Exons and Introns
3 exons and 7 distinct gt-ag introns.
Nucleotide Sequence
Aminoacid Sequence
Variation
rs884344 A/C
Induction
By cAMP, 12-O-tetradecanoylphorbol-13-acetate (TPA) and FGF2
Interactors
Protein Interactors
GDNF family receptor alpha 1
GDNF family receptor alpha 2
RET
Glial cell derived neurotrophic factor
Neural cell adhesion molecule 1
Post Translational Modification
Cleavage on pair of basic residues Disulphide bond Glycosylation
Molecular Weight
23720 da
Molecular Class
Growth factor
Molecular Function
Growth factor Protein homodimerization activity Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake
3D Structure