Full name: GDNF family receptor alpha 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: GDNFR; GDNFR-alpha-1; GDNFRA; GFR-ALPHA-1; GFRalpha-1; RET1L; RETL1; RHDA4; TRNR1

Summary: 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]

Expression: Ubiquitous expression in fat (RPKM 5.5), brain (RPKM 4.5) and 23 other tissues

Gene size: 217781bp

Exon count: 16