| Gene Symbol | ACTN3 |
| Entrez Gene ID | 89 |
| Full Name | actinin alpha 3 (gene/pseudogene) |
| Synonyms | ACTN3D |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | [Alpha-actinin-3 deficiency], 617749 (3); [Sprinting performance], 617749 (3) |







































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