ACTN1
Function
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. Association with IGSF8 regulates the immune synapse formation and is required for efficient T-cell activation (PubMed:22689882).
Involvement in disease
Bleeding disorder, platelet-type, 15
BDPLT15
An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the alpha-actinin family.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cytoplasm
- Myofibril
- Sarcomere
- Z line
- Cell membrane
- Cell junction
- Cell projection
- Ruffle
- Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle. Colocalizes with PSD in membrane ruffles and central reticular structures.
Alternative names
Alpha-actinin-1, Alpha-actinin cytoskeletal isoform, F-actin cross-linking protein, Non-muscle alpha-actinin-1, ACTN1