Aliases for GFRA1 Gene
External Ids for GFRA1 Gene
Previous HGNC Symbols for GFRA1 Gene
Previous GeneCards Identifiers for GFRA1 Gene
This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. This receptor is a glycosylphosphatidylinositol (GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
GeneCards Summary for GFRA1 Gene
GFRA1 (GDNF Family Receptor Alpha 1) is a Protein Coding gene. Diseases associated with GFRA1 include Hirschsprung Disease 1 and Multiple Endocrine Neoplasia, Type Iia. Among its related pathways are RET signaling and G-protein signaling_H-RAS regulation pathway. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and glial cell-derived neurotrophic factor receptor activity. An important paralog of this gene is GFRA2.
UniProtKB/Swiss-Prot Summary for GFRA1 Gene
Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor (By similarity).