Weinstein L S, Shenker A
Molecular Pathophysiology Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892.
Clin Biochem. 1993 Oct;26(5):333-8. doi: 10.1016/0009-9120(93)90109-j.
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.
异源三聚体G蛋白将细胞表面的细胞外信号受体与产生第二信使的细胞内效应器偶联起来。由细菌毒素的翻译后修饰、基因表达改变或基因突变导致的G蛋白信号异常，可能会导致多种生物学后果。已鉴定出G蛋白α亚基基因内导致组成性激活或功能丧失的突变。此类G蛋白突变在包括散发性内分泌肿瘤、McCune-Albright综合征和Albright遗传性骨营养不良在内的几种人类疾病的发病机制中起作用。
