GPCRs Diseases

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GPCRs Diseases

Studies show that the absence of GPCR function is related to global hypophenotypes of the target tissues; for example, hypothyroidism, hypogonadism, short stature and so on. The following table concludes some diseases related to the absence of GPCR function.

The function losing Receptor


Argine vasopressin receptor 2 Nephrogenic diabetes insipidus
Melanocortin 2 receptor Familial glucocorticoid deficiency type 1
Luteinizing hormone receptor Familial hypogonadism
Leydig cell hypoplasia (males)
Primary amenorrhea (females)
Follicle stimulating hormone receptor Sperm-related hypofertility (males)
Ovarian dysgenesis (females)
Gonadotropin-releasing hormone receptor Central hypogonadotropic hypogonadism
KiSS 1 receptor Central hypogonadotropic hypogonadism
NK3R (TACR3) Central hypogonadotropic hypogonadism
Prokineticin receptor 2 Central hypogonadotropic hypogonadism and anosmia (Kallmann syndrome)
Relaxin receptor Cryptorchidism in mice
Thyrotropin-releasing hormone receptor Central hypothyroidism
TSH receptor Euthyroid hyperthyrotropinemia


Congenital hypothyroidism

Growth-hormone-releasing hormone
Short stature (growth hormone deficiency)
Ghrelin receptor Short stature
Melanocortin 4 receptor Extreme obesity
Parathyroid hormone and parathyroid related protein Bloomstrand chondrodysplasia
Calcium-sensing receptor Benign familial hypocalciuric hypercalcemia
Neonatal severe primary hyperparathyroidism

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