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ACTN3 is a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status.
Gene Name: | actinin, alpha 3 |
Synonyms: | ACTN3, Actinin, alpha 3, Alpha-actinin skeletal muscle, Alpha-actinin-3, F-actin cross-linking protein |
Target Sequences: | NM_001104 NP_001095.2 Q08043 |
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