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actn3

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Official Full Name
Homo sapiens actinin, alpha 3 DNA.
Background
This gene encodes 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 contains the non-coding allele. The non-functional allele of this gene is;associated with elite athlete status.
Synonyms
ACTN3; actinin, alpha 3; alpha-actinin-3; F-actin cross-linking protein; alpha-actinin skeletal muscle; MGC117002; MGC117005