Gene Symbol | ACTN3 |
Entrez Gene ID | 89 |
Full Name | actinin alpha 3 (gene/pseudogene) |
Synonyms | ACTN3D |
General protein information |
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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) |