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Article

The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins.

BioEssays : news and reviews in molecular, cellular and developmental biology - 1 Jan 2010

Lek Monkol, Quinlan Kate G R, North Kathryn N

Abstract excerpt

In humans, there are two skeletal muscle alpha-actinins, encoded by ACTN2 and ACTN3, and the ACTN3 genotype is associated with human athletic performance. Remarkably, approximately 1 billion people worldwide are deficient in alpha-actinin-3 due to the common ACTN3 R577X polymorphism. The alpha-actinins are an ancient family of actin-binding proteins with structural, signalling and metabolic functions. The...

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Actinin
Evolution, Molecular
Gene Dosage
Gene Duplication
Molecular Motor Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Skeletal

Muscle Strength

Protein Interaction Domains and Motifs

Source

Identifiers

PMID: 19967710
DOI: 10.1002/bies.200900110

Genes

ACTN3
ACTN2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins.PMID 19967710Read ↗

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