GFRα1
GFRα1 (GDNF family receptor alpha-1) is a protein that in humans is encoded by the GFRA1 gene. It is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol (GPI)-linked cell surface receptor for both GDNF (glial cell line-derived neurotrophic factor) and NRTN (neurturin).
Function[edit | edit source]
GFRα1 is a receptor for GDNF and NRTN, which are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The GDNF-GFRα1 interaction is a part of a complex system of multiple ligands and receptors with potential implications for neural development.
Clinical significance[edit | edit source]
Mutations in the GFRA1 gene have been associated with Hirschsprung disease (HSCR). HSCR is a congenital disorder characterized by absence of enteric neurons along variable lengths of the colon resulting in intestinal obstruction.
Interactions[edit | edit source]
GFRα1 has been shown to interact with RET.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- GFRA1 at the US National Library of Medicine Medical Subject Headings (MeSH)
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Contributors: Prab R. Tumpati, MD
