GFRα3: Difference between revisions
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'''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 == | |||
GFRα3 is a receptor for [[neurturin]] (NTN). Together with the [[Glial cell line-derived neurotrophic factor|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 == | |||
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 == | |||
* [[GDNF family receptor alpha]] | |||
* [[RET proto-oncogene]] | |||
== References == | |||
<references /> | |||
== External links == | |||
* [https://www.ncbi.nlm.nih.gov/gene/26706 GFRA3] at the National Center for Biotechnology Information | |||
[[Category:Human proteins]] | |||
[[Category:Genes on human chromosome 15]] | |||
{{stub}} | |||
Revision as of 22:24, 25 February 2024
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
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
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
References
<references />
External links
- GFRA3 at the National Center for Biotechnology Information


