Gene: GFRA1

Alternate names for this Gene: GDNFR|GDNFRA|GFR-ALPHA-1|RET1L|RETL1|TRNR1

Gene 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q25.3

Description of this Gene: GDNF family receptor alpha 1

Type of Gene: protein-coding

rs17094393 in GFRA1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs10885877 in GFRA1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs3781545 in GFRA1 gene and Common Migraine PMID 28952330 2018 Genome-wide association study identifies novel susceptibility loci for migraine in Han Chinese resided in Taiwan.

rs11197571 in GFRA1 gene and Hirschsprung Disease PMID 19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

rs1679568 in GFRA1 gene and Rheumatoid Arthritis PMID 26776603 2016 A longitudinal genome-wide association study of anti-tumor necrosis factor response among Japanese patients with rheumatoid arthritis.

rs17094393 in GFRA1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.