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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 (show LDB3 Proteins), titin (show TTN Proteins) and vinculin (show VCL Proteins) preferentially bind to alpha-actinin-2 (show ACTN2 Proteins). 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 (show GYS1 Proteins) 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.
The children having both ACTN3 RR or RX genotype and ACE (show ACE Proteins) DD genotype showed high systolic blood pressure and low blood HDL (show HSD11B1 Proteins) cholesterol level, which may be considered a high-risk in metabolic syndrome.
This study has thus revealed a novel nuclear complex of F-actin, DRR1 (show FAM107A Proteins) and COMMD1 (show COMMD1 Proteins) that is involved in NF-kappaB (show NFKB1 Proteins) degradation and cell cycle suppression in neuroblastoma (show ARHGEF16 Proteins) 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 (show MSTN Proteins) 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 (show CDH5 Proteins).
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 (show ACE Proteins) 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 (show BGLAP Proteins) to exercise is not explained by the ACTN3 genotype
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