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The ACTN3 gene is 13.2 kb long and contains 21 exons. The equine ACTN3 gene has a ubiquitous expression but it is overexpressed in skeletal muscles
Actn3 controls sarcomeric composition and muscle function in a dose-dependent fashion.
New insights that have been made in understanding the molecular mechanisms that underlie the consequences of alpha-actinin-3 deficiency.[review]
Absence of alpha-actinin-3 resulted in reduced atrophic response and altered adaptation to disuse, as measured by a change in myosin heavy chain isoform.
ACTN3 likely contributes to the regulation of bone mass through alterations in bone turnover.
Data demonstrated that the Z-disk proteins, ZASP (Montrer LDB3 Kits ELISA), titin (Montrer TTN Kits ELISA) and vinculin (Montrer VCL Kits ELISA) preferentially bind to alpha-actinin-2 (Montrer ACTN2 Kits ELISA). Thus, the loss of alpha-actinin-3 changes the overall protein composition of fast fiber Z-disks and alters their elastic properties.
Actn3 knockout mice showed differences in intrinsic exercise performance, fast muscle force generation and male muscle mass.
alpha-actinin-3 may play a role in the development of fast-twitch, glycolytic properties in a muscle fiber, and in its absence slower twitch, more oxidative properties may develop.
alpha-Actinin-3 deficiency reduces the activity of glycogen (Montrer GYS1 Kits ELISA) phosphorylase and results in a fundamental shift toward more oxidative pathways of energy utilization--REVIEW
alpha-actinin-3 expression in a knockout mouse model results in a shift in muscle metabolism toward the more efficient aerobic pathway and an increase in intrinsic endurance performance
Study reports that muscle from Actn3 knockout mice displays reduced force generation, consistent with results from human association studies.
This study has thus revealed a novel nuclear complex of F-actin, DRR1 (Montrer FAM107A Kits ELISA) and COMMD1 (Montrer COMMD1 Kits ELISA) that is involved in NF-kappaB (Montrer NFKB1 Kits ELISA) degradation and cell cycle suppression in neuroblastoma (Montrer ARHGEF16 Kits ELISA) cells.
The RR genotype of ACTN3 R577X in the general Japanese population showed lower flexibility compared to the RX and XX genotypes.
p16(INK4a) expression in MCF7 breast cancer cells leads to increased cell size, weakened intercellular adhesion and cortical re-distribution of cytoskeletal F-actin.
our data showed a virtual absence of the variant (K) allele in MSTN (Montrer MSTN Kits ELISA) rs1805086 in Japanese population, and no differences in allele/genotype frequencies in ACTN3 rs1815739 among centenarians and healthy controls of this country.
Results indicate that the posthemorrhagic shock mesenteric lymph in vitro increases the cellular permeability of human umbilical vein endothelial cells through suppression of F-actin and VE-cadherin (Montrer CDH5 Kits ELISA).
These findings provide the basis for further functional investigations of the ITSN/CR16 complex that may play an important role in actin remodeling and cellular invasion.
The elite soccer players showed a tendency to a prevalence of ACTN3 RR and ACE (Montrer ACE Kits ELISA) DD genotypes both independently and in co-occurrence, in comparison with a general population.
the ACTN3 R577X polymorphism influences the level of competition and lower-extremity power of elite Chinese sprint/power athletes
It appears that the response of bone remodelling markers and undercarboxylated osteocalcin (Montrer BGLAP Kits ELISA) to exercise is not explained by the ACTN3 genotype
We did not identify novel associations between physical activity and ACTN3.
examine the dynamics of actin in the presence of alpha-acinin in solution; suggest mechanisms to deny binding access to other actin-binding proteins and may explain how very different actin cytoskeletal structures may co-exist in the same cell
Alpha-actinin may contribute to tension sensing in actin bundles.
This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants. The reference genome contains the non-coding allele. The non-functional allele of this gene is associated with elite athlete status.
, open reading frame 1
, actinin, alpha 3
, alpha 3 actinin
, F-actin cross-linking protein
, alpha-actinin skeletal muscle
, muscle alpha-actinin subunit