Table 1.
Loss of function diseases or abnormalities caused by GPCR misfolding.
| Disease or Abnormality | GPCR | Refs |
|---|---|---|
| Retinitis pigmentosa | Rhodopsin | [6] |
| Nephrogenic diabetes insipidus | V2R | [8, 10, 11] |
| Hypogonadotropic hypogonadism | GnRHR | [18] |
| Familial hypocalciuric hypercalcemia | CaR | [56] |
| Male pseudohermaphroditism | LHR | [57] |
| Hypergonadotropic hypogonadism | ||
| Ovarian dysgenesis | FSHR | [57] |
| Congenital hypothyroidism | TSHR | [13] |
| Hirschsprung’s disease | E-BR | [58] |
| Red head color and fair skin (RHC phenotype and propensity to skin cancer) |
MC1R | [37, 52] |
| Familial glucocorticoid deficiency | MC2R | [59] |
| Obesity | MC3R, MC4R | [60] |
| Resistance to HIV-1 infection | CCR5 | [61] |
V2R: Vasopressin Type-2 receptor; GnRHR: Gonadotropin-releasing hormone receptor; CaR: Calcium-sensing receptor; LHR: Lutropin (luteinizing hormone) receptor; FSHR: Follitropin (follicle-stimulating hormone) receptor; TSHR: Thyrotropin receptor; E-BR: Endothelin-B receptor; MC1R: Melanocortin-1 receptor; MC2R: Melanocortin-2 receptor [or adrenocorticotropin (ACTH) receptor]; MC3R: Melanocortin-3 receptor; MC4R: Melanocortin-4 receptor; CCR5: Chemokine receptor-5.