ACTN3, Alpha-actinin-3, Alpha-actinin skeletal muscle isoform 3, F-actin cross-linking protein
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 represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014],function:F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.,polymorphism:About 18% of the world population lack a functional ACTN3 due to a stop codon polymorphism at position 577. The absence of a functional ACTN3 expression is not correlated with a disease state.,sequence caution:According to the human genome assembly there is a stop codon in position 577 which is only found in 18% of the world population.,similarity:Belongs to the alpha-actinin family.,similarity:Contains 1 actin-binding domain.,similarity:Contains 2 CH (calponin-homology) domains.,similarity:Contains 2 EF-hand domains.,similarity:Contains 4 spectrin repeats.,subunit:Homodimer, antiparallel. Also forms heterodimers with ACTN2. Interacts with MYOZ1.,tissue specificity:Expressed only in a subset of type 2 skeletal muscle fibers.,
