Title : An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domain.

Pub. Date : 2009 Feb

PMID : 18927215






2 Functional Relationships(s)
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1 Functional characterization of the Q489H-TSHR in transiently transfected HEK293 cells showed cell surface expression, normal TSH binding affinity, and its inability to generate intracellular cAMP in response to TSH stimulation. Thyrotropin thyroid stimulating hormone receptor Homo sapiens
2 This study shows that Q489H substitution impedes complete glycosylation of TSHR extracellular domain within the Golgi apparatus and that Q489H-TSHR expressed at the cell surface is unable to undergo intramolecular cleavage as well as to switch toward an active conformation under TSH stimulation. Thyrotropin thyroid stimulating hormone receptor Homo sapiens