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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
基因功能參考文獻(xiàn):
A dual-beam optical tweezers measured the mechanics of alpha-actinin 2 and rabbit titin interaction at the single-molecule level. Depending on the direction of force application, the unbinding forces can more than triple. Multiple alpha-actinin/Z-repeat interactions cooperate to ensure long-term stable titin anchoring, while allowing the individual components to exchange dynamically. PMID: 28096424
These results provide new insights into the regulation of SK2 channel trafficking by the cytoskeletal proteins FLNA and alpha-actinin2, involving distinct recycling pathways PMID: 27779751
the interaction between GNE and alpha-actinin 1 and alpha-actinin 2 occur at different sites in the alpha-actinin molecules and that for alpha-actinin 2 the interaction site is located at the C-terminus of the protein. PMID: 27023225
The full length mEos2 tagged protein expressed in adult cardiomyocytes shows that both mutations additionally affect Z-disc localization and dynamic behaviour PMID: 27287556
study strengthens the hypothesis that ACTN2 influences caries risk. PMID: 24810274
The novel heterozygous missense sequence variant ACTN2 cosegregated with a complex cardiomyopathic trait, characterized by the interplay of midapical, nonobstructive HCM, early onset of AF and AV block, as well as regional LV noncompaction. PMID: 25173926
Clinical evaluation of an Australian family revealed diverse cardiac pathologies in four affected members and genetic testing of the exome identified a pathogenic ACTN2 heterozygous variant (Ala119Thr) that co-segregated with disease. PMID: 25224718
Study reports a complete high-resolution structure of the 200 kDa alpha-actinin-2 dimer from striated muscle and explore its functional implications on the biochemical and cellular level. PMID: 25433700
This study generated the genomic sequences of K88-positive and F18-positive porcine enteroteoxigenic E. coli (ETEC) strains and examined the phylogenetic distribution of clinical porcine ETEC strains and their plasmid-associated genetic content. PMID: 22081385
Findigs show that the F-actin-binding protein alpha-actinin-2 targets CaMKIIalpha to F-actin in cells by binding to the CaMKII regulatory domain. PMID: 22427672
data provide functional evidence that the primary sequences of alpha-actinin-2 and alpha-actinin-3 evolved differences to optimize their functions PMID: 22253474
This is the first genome-wide linkage analysis that shows mutations in ACTN2 cause HCM PMID: 20022194
BPAG1-b was detectable in vitro and in vivo as a high molecular mass protein in striated and heart muscle cells, co-localizing with alpha-actinin-2 and partially with the cytolinker plectin as well as with the intermediate filament protein desmin. PMID: 19932097
Spectrin-like repeats from dystrophin and alpha-actinin-2 are not functionally interchangeable. PMID: 12140183
Association of Ca2+-activated K+ channel with alpha-actinin2 localizes channel to entry of external Ca(2+) source, which regulates channel function. PMID: 17110593
actinin-2 participate in sequestering parafibromin in the cytoplasmic compartment. PMID: 18687124
ACTN2 expression is affected by the content of alpha-actinin-3. PMID: 19150855
demonstrate that proper membrane localization of a small-conductance Ca(2+)-activated K(+) channel (SK2 or K(Ca)2.2) is dependent on its interacting protein, alpha-actinin2, a major F-actin crosslinking protein. PMID: 19815520
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相關(guān)疾?。?/div>
Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23); Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA)
亞細(xì)胞定位:
Cytoplasm, myofibril, sarcomere, Z line. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.