GFRα4
GFRα4 is a protein that in humans is encoded by the GFRα4 gene. It is a member of the GDNF family receptor alpha (GFRα) proteins, which are cell surface receptors for the glial cell line-derived neurotrophic factor (GDNF) family ligands (GFLs). GFRα4 is the preferred receptor for persephin (PSPN), a member of the GFLs.
Function[edit | edit source]
GFRα4, along with the RET proto-oncogene, forms a receptor complex for PSPN. This receptor complex mediates the biological effects of PSPN, which include neuronal survival and differentiation. GFRα4 is predominantly expressed in the testis and in the central nervous system (CNS), particularly in the thalamus.
Clinical significance[edit | edit source]
Mutations in the GFRα4 gene have been associated with Hirschsprung's disease, a congenital disorder characterized by the 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]
- GFRα4 at the National Center for Biotechnology Information (NCBI)
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Contributors: Prab R. Tumpati, MD
