ACTN3

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