| Gene Symbol | ACTN3 |
|---|---|
| Entrez Gene | 89 |
| Alt Symbol | - |
| Species | Human |
| Gene Type | protein-coding |
| Description | actinin, alpha 3 (gene/pseudogene) |
| Other Description | F-actin cross-linking protein|alpha-actinin skeletal muscle|alpha-actinin-3 |
| Swissprots | Q08043 Q4KKV2 A6NP77 |
| Accessions | EAW74546 Q08043 AJ346025 AK125851 AK303044 BAG64164 AK313556 BAG36331 AL043389 BC096323 AAH96323 BC099647 AAH99647 BC099648 AAH99648 BC099649 AAH99649 BQ575174 BU732652 CX787471 DA827389 DA915904 M86407 AAA51585 NM_001104 NP_001095 NM_001258371 NP_001245300 NR_047663 |
| Function | F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. |
| Tissue Specificity | Expressed only in a subset of type 2 skeletal muscle fibers. {ECO:0000269|PubMed:11440986}. |
| Top Pathways | Systemic lupus erythematosus, Adherens junction, Arrhythmogenic right ventricular cardiomyopathy (ARVC), Leukocyte transendothelial migration, Amoebiasis |