Table 1.
Loss of function diseases or abnormalities caused by GPCR misfolding. Reproduced from Conn & Ulloa-Aguirre (2010) with permission from Cell Press, Cambridge, MA.
| Disease or Abnormality | GPCR | Refs |
|---|---|---|
| Retinitis pigmentosa | Rhodopsin | (Mendes et al., 2005) |
| Nephrogenic diabetes insipidus | V2Ra | (Bichet, 2006; Fujiwara & Bichet, 2005; Hermosilla et al., 2004) |
| Hypogonadotropic hypogonadism | GnRHR | (Ulloa-Aguirre & Conn, 2009) |
| Familial hypocalciuric hypercalcemia | CaR | (Huang & Breitwieser,2007) |
| Male pseudohermaphroditism | LHR | (Huhtaniemi & Themmen, 2005) |
| Hypergonadotropic hypogonadism | ||
| Ovarian dysgenesis | FSHR | (Huhtaniemi & Themmen, 2005) |
| Congenital hypothyroidism | TSHR | (Calebiro et al., 2005) |
| Hirschsprung’s disease | E-BR | (Amiel et al., 2008) |
| Red head color and fair skin (RHC phenotype and propensity to skin cancer) | MC1R | (Beaumont et al., 2005; Beaumont et al., 2007) |
| Familial glucocorticoid deficiency | MC2R | (A. J. Clark, Metherell, Cheetham, & Huebner, 2005) |
| Obesity | MC3R, MC4R | (Tao, 2005) |
| Resistance to HIV-1 infection | CCR5 | (Reiche, Bonametti, Voltarelli, Morimoto, & Watanabe, 2007) |
a
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.