ACTN2 (GeneName), Alpha-actinin-2 (ProteinName), ACTN2_HUMAN.
Product Name:
Human ACTN2/ Alpha-actinin-2 ELISA Kit
Cat.#:
-
Brand:
EIAab®
Regulatory Status:
Alternative:
Alpha-actinin skeletal muscle isoform 2, F-actin cross-linking protein
Detection Method:
ELISA
Specificity:
Natural and recombinant human Alpha-actinin-2
Sample Type:
Serum, plasma, tissue homogenates, cell culture supernates and other biological fluids
Sample Data:
Research Area:
Cancer
- Data
- Citations
- Publication
- Sequence / 3D
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General Annotation
Sub Unit:
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. Interacts with SYNPO2.
Function:
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
Subcellular Location:
Cytoplasm
Myofibril
Sarcomere
Z line
Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.
Database link
Valid Sequence:
This product has not yet been referenced specifically in any publications.
[1].
"Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11."
[2].
"Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis."
[5].
"Fine mapping and genomic structure of ACTN2, the human gene coding for the sarcomeric isoform of alpha-actinin-2, expressed in skeletal and cardiac muscle."
[6].
"Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study."
[7].
"Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death."
[8].
"F-box and leucine-rich repeat protein 22 is a cardiac-enriched F-box protein that regulates sarcomeric protein turnover and is essential for maintenance of contractile function in vivo."
[9].
"Human variation in alcohol response is influenced by variation in neuronal signaling genes."
[10].
"Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score."
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