Description

The protein encoded by the FSHR gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. The activity of the follicle-stimulating hormone, or follitropin, is mediated by G proteins which activate adenylate cyclase (Costagliola et al., 2002). Induces cAMP production through the activation of PI3K-AKT and SRC-ERK1/2 signaling pathways (Uchida et al., 2013).

External Information

Click here for more information about the FSHR whole gene NGS genetic test.