GFRA1
Function
Coreceptor for GDNF, a neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake (PubMed:10829012, PubMed:31535977). GDNF-binding leads to autophosphorylation and activation of the RET receptor (PubMed:31535977).
Involvement in disease
Renal hypodysplasia/aplasia 4
RHDA4
An autosomal recessive, severe congenital anomaly of the kidney and urinary tract characterized by bilateral renal agenesis, and severely reduced or absent amniotic fluid during pregnancy. Patients exhibit the Potter sequence, including flattened nose, ear anomalies, and receding chin. Some affected individuals have limb contractures and joint dislocations. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the GDNFR family.
Cellular localization
- Cell membrane
- Lipid-anchor
- GPI-anchor
- Golgi apparatus
- trans-Golgi network
- Endosome
- Endosome
- Multivesicular body
- Localizes mainly to the plasma membrane. In the presence of SORL1, shifts to vesicular structures, including trans-Golgi network, endosomes and multivesicular bodies.
Alternative names
GDNFRA, RETL1, TRNR1, GFRA1, GDNF family receptor alpha-1, GDNF receptor alpha-1, GDNFR-alpha-1, GFR-alpha-1, RET ligand 1, TGF-beta-related neurotrophic factor receptor 1