多态性g蛋白偶联受体与相关疾病。

Receptors & channels Pub Date : 2002-01-01
Dianne M Perez
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引用次数: 0

摘要

多态性在人类中是相当普遍的。很可能每个基因都是多态的。大多数这些变化是常见的,没有功能后果。然而,随着我们更多地了解g蛋白偶联受体(gpcr)的功能,以及氨基酸差异如何调节功能以足够测量,特别是在受损的身体状态下,表征这些变化的重要性变得实质性。本文将重点讨论结合生物胺、钙、阿片样物质、内皮素以及那些调节味觉、皮肤色素沉着和卵子发生的受体的多态性,这些受体被认为会引起生理变化。
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Polymorphic G-protein-coupled receptors and associated diseases.

Polymorphisms are quite common in the human population. Most likely every gene could be polymorphic. Most of these variations are common and have no functional consequence. However, as we learn more about the function of G-protein-coupled receptors (GPCRs) and how amino acid differences can modulate the function enough to measure, especially in a compromised physical state, the importance of characterizing these variations becomes substantial. This review will focus on polymorphisms in receptors that bind biogenic amines, calcium, opioids, endothelin, and those that also regulate taste, skin pigmentation, and oogenesis that have been suggested to cause variations of physiology.

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