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Actin Mutations and Their Role in Disease.


ABSTRACT: 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.

SUBMITTER: Parker F 

PROVIDER: S-EPMC7247010 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Actin Mutations and Their Role in Disease.

Parker Francine F   Baboolal Thomas G TG   Peckham Michelle M  

International journal of molecular sciences 20200510 9


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 muta  ...[more]

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