Home
>
Product
>
Antibody
>
Rabbit Anti-Sarcomeric Alpha Actinin/FITC Conjugated antibody
Function:
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
Subunit:
Homodimer; antiparallel. Also forms heterodimers with ACTN3. Interacts with ADAM12, MYOZ1, MYOZ2 and MYOZ3. Interacts via its SLCterminal region with the LDB3 PDZ domain. Interacts with XIRP2. Interacts with DST isoform 1 (via N-terminus). Interacts with PARVB.
Subcellular Location:
Cytoplasm, myofibril, sarcomere, Z line. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.
Tissue Specificity:
Expressed in both skeletal and cardiac muscle.
Post-translational modifications:
Ubiquitinated by FBXL22, leading to proteasomal degradation.
DISEASE:
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.
Similarity:
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.
Database links:
Entrez Gene: 88 Human
Entrez Gene: 11472 Mouse
Entrez Gene: 291245 Rat
Omim: 102573 Human
SwissProt: P35609 Human
SwissProt: Q9JI91 Mouse
Unigene: 498178 Human
Unigene: 37638 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|