7xw9

Structural highlights

Disease

TRFR_HUMAN Resistance to thyrotropin-releasing hormone syndrome. The disease is caused by variants affecting the gene represented in this entry.

Function

TRFR_HUMAN Receptor for thyrotropin-releasing hormone (TRH). Upon ligand binding, this G-protein-coupled receptor triggers activation of the phosphatidylinositol (IP3)-calcium-protein kinase C (PKC) pathway.^{[1] [2]}

References

1. ↑ Koulouri O, Nicholas AK, Schoenmakers E, Mokrosinski J, Lane F, Cole T, Kirk J, Farooqi IS, Chatterjee VK, Gurnell M, Schoenmakers N. A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism. J Clin Endocrinol Metab. 2016 Mar;101(3):847-51. doi: 10.1210/jc.2015-3916. Epub , 2016 Jan 6. PMID:26735259 doi:http://dx.doi.org/10.1210/jc.2015-3916
2. ↑ Collu R, Tang J, Castagne J, Lagace G, Masson N, Huot C, Deal C, Delvin E, Faccenda E, Eidne KA, Van Vliet G. A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. J Clin Endocrinol Metab. 1997 May;82(5):1561-5. doi: 10.1210/jcem.82.5.3918. PMID:9141550 doi:http://dx.doi.org/10.1210/jcem.82.5.3918