G protein mutations in human disease.
The heterotrimeric G proteins couple cell-surface receptors for extracellular signals to intracellular effectors that generate second messengers. Abnormal G protein signalling, resulting from posttranslational modifications by bacterial toxins, altered gene expression, or gene mutations, may lead to diverse biological consequences. Mutations within G protein alpha subunit genes that lead to either constitutive activation or loss of function have been identified. Such G protein mutations play a role in the pathogenesis of several human diseases, including sporadic endocrine tumors, McCune-Albright syndrome, and Albright hereditary osteodystrophy.
Weinstein
L S
LS
Molecular Pathophysiology Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892.
Shenker
A
A
D000818:Animals; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics*; D019204:GTP-Binding Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D009154:Mutation; D010911:Pituitary Neoplasms / Q000235:genetics*; D011547:Pseudohypoparathyroidism / Q000235:genetics*; D011556:Pseudopseudohypoparathyroidism / Q000235:genetics*
D019204:GTP-Binding Proteins