School of Molecular and Cellular Biology, University of Leeds, Leeds LS2 9JT, UK.
Int J Mol Sci. 2020 May 10;21(9):3371. doi: 10.3390/ijms21093371.
Actin is a widely expressed protein found in almost all eukaryotic cells. In humans, there are six different genes, which encode specific actin isoforms. Disease-causing mutations have been described for each of these, most of which are missense. Analysis of the position of the resulting mutated residues in the protein reveals mutational hotspots. Many of these occur in regions important for actin polymerization. We briefly discuss the challenges in characterizing the effects of these actin mutations, with a focus on cardiac actin mutations.
肌动蛋白是一种广泛表达的蛋白质，几乎存在于所有真核细胞中。在人类中，有六个不同的基因，它们编码特定的肌动蛋白同工型。已经描述了这些基因中的每一个的致病突变，其中大多数是错义突变。对导致突变的残基在蛋白质中的位置的分析揭示了突变热点。其中许多发生在对肌动蛋白聚合很重要的区域。我们简要讨论了描述这些肌动蛋白突变影响的挑战，重点是心脏肌动蛋白突变。
