英文名称
Alpha Actinin 2 Recombinant Rabbit mAb
英文别名
CMD1AA; CMH23; CMYO8; CMYP8; MPD6; MYOCOZ; 1110008F24Rik; ACTN2_HUMAN; ACTN2; Alpha-actinin skeletal muscle isoform 2; F-actin cross-linking protein; ACTN2_MOUSE; actinin alpha 2
免疫原
KLH conjugated synthetic peptide derived from human Sarcomeric Alpha Actinin
纯化方法
affinity purified by Protein A
保存条件
Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事项
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
背景资料
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]
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.
相似性
Belongs to the alpha-actinin family.
Contains 1 actin-binding domain.
Contains 2 CH (calponin-homology) domains.
Contains 2 EF-hand domains.
Contains 4 spectrin repeats.
功能
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.