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 Signaling by GPCR. 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).