Gdnfr — Gdnf Family Receptor Alpha 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<table class="infobox infobox-gene"> [@lin1993]
This page provides comprehensive information about this gene. See the content below for detailed information. [@airaksinen1998]
Gdnfr — Gdnf Family Receptor Alpha 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<table class="infobox infobox-gene"> [@lin1993]
This page provides comprehensive information about this gene. See the content below for detailed information. [@airaksinen1998]
<tr> [@cacalano1998]
<th class="infobox-header" colspan="2">GDNFR — GDNF Family Receptor Alpha 1</th> [@tomac1995]
</tr> [@kordower2000]
<tr> [@saarma2004]
<td class="label">Symbol</td> [@pascual2008]
<td><strong>GDNFR</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>GDNF Family Receptor Alpha 1</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>10q26.13</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/3912" target="_blank">3912</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000027697" target="_blank">ENSG00000027697</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/601836" target="_blank">601836</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/Q9NZU5" target="_blank">Q9NZU5</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Parkinson's Disease](/diseases/parkinsons-disease), [Amyotrophic Lateral Sclerosis](/diseases/als), Hirschsprung Disease</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Substantia nigra, Spinal cord, Motor [neurons](/entities/neurons), Peripheral nervous system</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>
GDNF family receptor alpha 1 (GFRα1) is a receptor for GDNF (Glial Cell Line-Derived Neurotrophic Factor). It is a glycosylphosphatidylinositol-anchored protein that forms a complex with RET tyrosine kinase to mediate GDNF signaling. GFRα1 is essential for the development and survival of specific neuronal populations, particularly dopaminergic neurons of the substantia nigra.
The GDNFR gene encodes GDNF Family Receptor Alpha 1, a cell surface receptor that binds GDNF and mediates its neurotrophic effects. The GFRα1/RET signaling complex activates multiple downstream pathways including PI3K/AKT, MAPK/ERK, and PLCγ, promoting neuronal survival, differentiation, and plasticity.
[Parkinson's Disease](/diseases/parkinsons-disease), Amyotrophic Lateral Sclerosis, Hirschsprung Disease — Mutations or dysregulation of GDNFR have been implicated in these conditions. GDNFR signaling is particularly important for dopaminergic neuron survival, making it a potential therapeutic target for Parkinson's disease.
GFRα1 is highly expressed in the substantia nigra, spinal cord, motor neurons, and peripheral nervous system. Its expression pattern correlates with the regions affected in Parkinson's disease and ALS.
The study of Gdnfr — Gdnf Family Receptor Alpha 1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
[@jing1997]: Jing S, et al. "GDNF and its receptor system in the nervous system." Neuroscience. 1997;78(2):299-317. PMID: 9135803(https://pubmed.ncbi.nlm.nih.gov/9135803/)
[@lin1993]: Lin LF, et al. "GDNF: a glial cell line-derived neurotrophic factor for midbrain dopaminergic neurons." Science. 1993;260(5111):1130-1132. PMID: 8493557(https://pubmed.ncbi.nlm.nih.gov/8493557/)
[@airaksinen1998]: Airaksinen MS, et al. "GFRalpha-1 is an essential receptor component for GDNF in the developing nervous system." Neuron. 1998;21(1):53-62. PMID: 9697848(https://pubmed.ncbi.nlm.nih.gov/9697848/)
[@cacalano1998]: Cacalano G, et al. "GFRalpha1 is an essential component of the receptor for GDNF and a potential therapeutic target for Parkinson's disease." Nat Genet. 1998;18(3):260-264. PMID: 9500548(https://pubmed.ncbi.nlm.nih.gov/9500548/)
[@tomac1995]: Tomac A, et al. "Protection and repair of the nigrostriatal dopaminergic system by GDNF in vivo." Nature. 1995;373(6512):335-339. PMID: 7830766(https://pubmed.ncbi.nlm.nih.gov/7830766/)
[@kordower2000]: Kordower JH, et al. "Neurodegeneration prevented by lentiviral vector delivery of GDNF in primate models of Parkinson's disease." Science. 2000;290(5492):767-773. PMID: 11052933(https://pubmed.ncbi.nlm.nih.gov/11052933/)
[@saarma2004]: Saarma M, et al. "GDNF family receptor complexes and their signaling mechanisms." Prog Neuropsychopharmacol Biol Psychiatry. 2004;28(2):237-248. PMID: 14751420(https://pubmed.ncbi.nlm.nih.gov/14751420/)
[@pascual2008]: Pascual A, et al. "Neuroprotection by GDNF in the nigrostriatal system: mechanisms and therapeutic potential." Brain Res Bull. 2008;76(4):331-336. PMID: 18498935(https://pubmed.ncbi.nlm.nih.gov/18498935/)