GFRα3
GFRα3 is a protein that in humans is encoded by the GFRA3 gene. It 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.
Function[edit | edit source]
GFRα3 is a receptor for neurturin (NTN). Together with the GDNF, NTN forms complexes with and mediates the activity of the RET proto-oncogene. GFRα3 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.
Clinical significance[edit | edit source]
Alterations in the GFRA3 gene have been associated with Hirschsprung's disease, a genetic disorder that results in an absence of nerve cells in the colon, leading to severe constipation and intestinal obstruction.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- GFRA3 at the National Center for Biotechnology Information
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