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GFRα1

GFRA1
Protein GFRA1 PDB 1q8d.png
Identifiers
Aliases GFRA1, GDNFR, GDNFRA, GFR-ALPHA-1, RET1L, RETL1, TRNR1, GDNF family receptor alpha 1
External IDs MGI: 1100842 HomoloGene: 3855 GeneCards: GFRA1
Gene location (Human)
Chromosome 10 (human)
Chr. Chromosome 10 (human)
Chromosome 10 (human)
Genomic location for GFRA1
Genomic location for GFRA1
Band 10q25.3 Start 116,056,925 bp
End 116,273,467 bp
RNA expression pattern
PBB GE GFRA1 205696 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001285457
NM_010279

RefSeq (protein)

NP_001272386
NP_034409

Location (UCSC) Chr 10: 116.06 – 116.27 Mb Chr 10: 58.24 – 58.46 Mb
PubMed search

NM_001348098
NM_001348099

NM_001285457
NM_010279

NP_001335027
NP_001335028

NP_001272386
NP_034409

GDNF family receptor alpha-1 (GFRα1), also known as the GDNF receptor, is a protein that in humans is encoded by the GFRA1 gene.

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. The protein encoded by this gene is a member of the GDNF receptor family. It 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. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene.


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