G protein mutations in human disease.

Abstract

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.

• Authors: L S Weinstein, A Shenker
• Journal: Clinical biochemistry (Clin Biochem) Vol. 26 Issue 5 Pg. 333-8 (Oct 1993) ISSN: 0009-9120 [Print] United States
• PMID: 8299203 (Publication Type: Journal Article, Review)

Chemical References

• GTP-Binding Proteins

Topics

• Animals
• Fibrous Dysplasia, Polyostotic (genetics)
• GTP-Binding Proteins (chemistry, genetics, physiology)
• Gene Expression (genetics)
• Humans
• Mice
• Mice, Transgenic
• Mutation
• Pituitary Neoplasms (genetics)
• Pseudohypoparathyroidism (genetics)
• Pseudopseudohypoparathyroidism (genetics)