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3 Citations 3 Q&As
Facts about Alpha-actinin-2.
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Human | |
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Gene Name: | ACTN2 |
Uniprot: | P35609 |
Entrez: | 88 |
Belongs to: |
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alpha-actinin family |
Actinin alpha 2; actinin, alpha 2; Actinin-a2; ACTN2; alpha Actinin 2; alpha-Actinin 2; Alpha-actinin skeletal muscle isoform 2; Alpha-Actinin Skeletal Muscle; Alpha-Actinin-2; CMD1AA; F-actin cross-linking protein
Mass (kDA):
103.854 kDA
Human | |
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Location: | 1q43 |
Sequence: | 1; NC_000001.11 (236686454..236764631) |
Expressed in both skeletal and cardiac muscle.
Cytoplasm, myofibril, sarcomere, Z line. Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.
Scientists might be asking, "What are some of the most effective uses for the ACTN2 marker?" Continue reading if sure. This marker is frequently used in research that involves cardiomyopathies and Z-discopathies. You can submit your findings for product credits by using this product. All scientists, even those from around the world, are eligible for this product.
The ACTN2 gene is located in the cytoplasm of the heart and is directly involved in cardiac ion channels, specifically the sodium ion channel SCN5A. This marker could also function as a bridge between the channels, which may affect their function and localisation. The mutation Ala119Thr is likely to disrupt one of these functions. This gene is highly relevant to the study of Z discopathies.
Traditional genetic testing strategies would have been considered to be a common cardiomyopathy gene panel , as well as an arrhythmogenic gene diagnostic panel. However, ACTN2 is not usually included on any panel or diagnostic test. A comprehensive cardiomyopathy gene panel could contain genes associated with various minor conditions, including this one. All family members affected were tested for the ACTN2 mutation which confirmed its clinical utility.
ACTN2 mutations can lead to cardiac phenotype heterogeneity. This has implications for the diagnosis and screening family members who are at high risk. Understanding the pathogenesis of this disease will give you new insights. The ACTN2 gene is believed to be an ancestral member of the ALB and EI families and is responsible for the phenotypes of the cardiac muscle being heterogeneous. In addition , to the cardiac heterogeneity in phenotypes, it also has multiple mechanistic functions. Exome sequencing can be extremely useful in situations where there are clinical manifestations that are inconsistent.
ACTN2 is a member of the G-protein-coupled receptors family. It performs several roles in the body. It may influence insulin release metabolism. Studies have proven that type 2 diabetes risk can be affected by the presence of polymorphisms in the gene. Boster Bio has validated all of its antibodies. In addition to its extensive collection, Boster offers a dedicated site to upload results for ACTN2 gene analysis.
ACTN2 gene mutations are linked to arrhythmogenic and mechanical defects. Exome sequencing can help determine the genetic root of cardiac disease. This gene can also be used for whole-exome sequence that is not biased. However, there are other applications for ACTN2 that are not limited to heart disease. Here are some. ACTN2 Marker
A patient with a genetic form of cardiomyopathy was referred to through an outpatient clinic at the University Heart Center Hamburg. The patient gave written consent and cardiac tissue was removed during septal myectomy. The control donors were healthy human hearts that died from some other reason. The Ethical Committee of the Arztkammer Hamburg approved the research. Before being included in this study all patients and donors gave informed consent.
iPSC-derived cardiomyocytes from patients with HCM showed sarcomeric structural disarray with impaired contractility and an abnormal Ca2+-signaling. These findings suggest that the loss of the C-terminus of ACTN2 alters its interaction with sarcomere associated proteins, which is a contributing factor to the clinical arrhythmias of the disease. The researchers confirmed that the mutation in ACTN2 occurred the use of CRISPR/Cas9 to edit the gene.
The electromechanical phenotype may be due to the higher ICa,L levels in HCM-EHTs. In addition, the elevated ICa,L levels could be a contributing factor to the electromechanical phenotype of ACTN2-associated HCM. It is important to remember that the ACTN2 marker is not the only marker for HCM. More research is required to understand the function of the ACTN2 gene in the pathology and the development of targeted therapies.
ACTN2 is a gene that plays a role in the growth and development of the heart. It is distinguished by its large N terminal actin binding region and two EF hand motifs near its Cterminus. Multiple studies have proven that this gene is expressed in skeletal muscles, heart, and fetal muscles of the skeletal. This gene is passed down and may be linked to a condition known as Atrophic Cardiac Myopathy.
The ACTN2 gene plays a variety of roles within the body. It is responsible for a range of biological signaling pathways and functions. The ACTN2 gene is the best candidate to further investigate Z-discopathies. The mutations in this gene disrupt myofibrillogenesis, and can affect the formation of the terminal Z-disc. It could also serve as a platform for interaction protein, including ACTN2 proteins.
The mutation in this gene causes significant clinical heterogeneitythat could be important in diagnosing and screening affected individuals. The ACTN2 mutation may not be discovered by traditional genetic testing methods. These tests typically comprised the panel of genes associated with cardiomyopathic or arrhythmogenic disorders. A comprehensive gene panel for cardiomyopathy may also include minor diseases-associated genes.
Alpha-actinin, a protein which binds to actin and provides structural support for the disc is also referred to as Alpha-actinin. Alpha-actinin is a part of Z-disks. It anchors F-actin and titin. This protein provides structural support to the disc and is depleted by ACTN2 gene transcription, which causes lateral alignment to be disrupted.
Theis et al. (2006) discovered a mutation in ACTN2 with heterozygosity for the arg759–to-thr substitution. The mutation was not observed in any of the patients with healthy parents, or 200 controls. The patient underwent myectomy following suffering from Idiopathic CMD. It was not an inheritance issue; the patient died at the age of 42.
One of the most frequent mutations in ACTN2 is the non-synonymous variant in exon 19 which is five amino acids smaller than intron 19. This deletion isn't caused by an ordinary dna deletion, but rather an early development of an alternate internal splice donor. This variant is associated with supraventricular familial arrhythmias across all members of the family.
ACTN2 mutations increase the risk of arrhythmias such as sudden cardiac deaths or progressive heart failure. These mutations are also seen in patients with cardiomyopathy, which suggests a causal basis. However, mutations in ACTN1 or ACTN4 do not have a direct analog in the human genome. To determine if a patient is affected by this non-synonymous mutation the genetic test will be required.
This variant was also discovered in the proband as well as his family members. This variant was paternal origin, which was further confirmed by Sanger sequencing. The ES of the father and son duo demonstrated that the ACTN2 variant was a novel missense mutation. The variant contains an Leu223Pro mutation that is highly conserved across species. The mutations in ACTN2 are related to autosomal dominant inherited disorders like LVNC.
Mutations in the ACTN2 genes could cause clinical heterogeneity. This gene may be linked to Z-disc genes. Mutations in ACTN2 may alter the arrhythmic and structural characteristics of the Z-disk. These mutations could also lead to the development and progress of cardiomyopathy. Patients with ACTN2 mutations may be more at risk of developing vascular disease. Their symptoms could be more severe than those with normal ACTN2.
PMID: 1339456 by Beggs A.H., et al. Cloning and characterization of two human skeletal muscle alpha- actinin genes located on chromosomes 1 and 11.
PMID: 10548523 by Tiso N., et al. 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.
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