| 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
|