Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
WB
Mouse, Rat
Human
1:500-2000
IHC-P
Human, Mouse, Rat
1:50-200
IHC-F
Human, Mouse, Rat
1:50-200
IF
Human, Mouse, Rat
1:50-200
交叉反应
交叉反应: Human, Mouse, Rat
相关产品
暂无相关产品
靶标
基因名
ACTN2
蛋白名
alpha-actinin-2
亚基
Homodimer; antiparallel. Also forms heterodimers with ACTN3. Interacts with ADAM12, MYOZ1, MYOZ2 and MYOZ3. Interacts via its C-terminal region with the LDB3 PDZ domain. Interacts with XIRP2. Interacts with DST isoform 1 (via N-terminus). Interacts with PARVB.
亚细胞定位
Cytoplasm, myofibril, sarcomere, Z line. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.
组织特异性
Expressed in both skeletal and cardiac muscle.
翻译后修饰
Ubiquitinated by FBXL22, leading to proteasomal degradation.
疾病
Cardiomyopathy, dilated 1AA (CMD1AA) [MIM:612158]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Note=The disease is caused by mutations affecting the gene represented in this entry.