ACTN3, Official Symbol ACTN3provided by HGNC Official Full Name actinin alpha 3provided by HGNC Primary source HGNC:HGNC:165 See related Ensembl:ENSG00000248746 MIM:102574; AllianceGenome:HGNC:165 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACTN3D Summary 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] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Biased expression in testis (RPKM 1.6), prostate (RPKM 0.6) and 2 other tissues See more Orthologs mouse all