The ACTN3 gene is associated with the synthesis of alpha actinin 3 protein present in the fast twitch fibers (Type II) of skeletal muscle. This page provides an alphabetical list of the professional practice guidelines, position statements, and recommendations that have been identified. ⦠Athletic performance has largely been attributed to the intensity and frequency of training and type of coaching from a young age. stop codon polymorphism, R577X, in the ACTN3 gene. Tracing back the history of speed: selection for a non-functional ACTN3 gene. The latest edition of this human gene map (15) lists more than 150 genes or genetic regions associated with athletic performance and physical fitness traits. Gene Details. ... , such as training and diet, as well as other genes have a far greater impact on sprinting performance than ACTN3 alone. Diseases associated with ACTN2 include Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction and Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities.Among its related pathways are RET signaling and Signaling by GPCR. These types of skeletal muscle are responsible for generating force at high velocity. ACTN3 is a gene that encodes for alpha-actinin-3, a protein expressed only in type-II muscle fibers (North et al., 1999).A common polymorphism in this gene is R577X (rs1815739), where a C-to-T base substitution results in the transformation of an ⦠The cancer tissue page shows antibody staining of the protein in 20 different cancers. We constructed expression plasmids encoding mature mRNA that lacks introns or pre-mRNA, which carries introns for the ACTN3 577X gene (X and Xpre, respectively) and transfected the constructs into HEK293cells. The show/hide columns function can be used to customize the columns in the search result list. Trait overview: Muscle performance (ACTN3) ACTN3 encodes a protein which is key for power and speed based performance. The ACTN3 gene encodes the Alpha-actinin protein which is involved in the composition of skeletal muscle. It codes for a protein called alpha-actinin-3, which supports high-velocity, forceful contraction of fast-twitch (Type II) muscle fibers. Alleles. There is a polymorphism in this gene (R577X) that induces a premature stop-codon ( North et al., 1999 ). Broos S, Malisoux L, Theisen D, van Thienen R, Ramaekers M, Jamart C, Deldicque L, Thomis MA, Francaux M PLoS One 2016 Mar 1;11(3):e0150594. 1a). The ACTN3 R577X (rs1815739) polymorphism is a functional polymorphism caused by a common genetic single nucleotide polymorphism (SNP) Quite literally, your genotype at ACTN3 may be the difference between qualifying for the Olympics and winning a medal. α-actinin 3 protein is a major component of the Z-line, it connects with actin filaments to coordinate muscle contraction (Figure 1). ACTN3 gene dosage in muscle performance was investigated. We use cookies to enhance the usability of our website. ACTN2 (Actinin Alpha 2) is a Protein Coding gene. The variants shown are described using the NR_047663.1 transcript reference sequence. What is ACTN3?ACTN3 is the famous âgene for speedâ. ACTN3 doesn't tell you whether or not your child will be a super-athlete This is obvious when you consider the population frequencies of the three different combinations that the ACTN3 gene ⦠Evidence for ACTN3 as a Speed Gene in Isolated Human Muscle Fibers. The α-actinin 3 (ACTN3) gene encodes a protein of the Z disk of myofibers, and a polymorphism of ACTN3 results in complete loss of the protein. 1 gene found i The search result lists the genes found by the search function. Find diseases associated with this biological target and compounds tested against it in bioassay experiments. Bgee i: ENSG00000248746, Expressed in skeletal ... About 18% of the world population lack a functional ACTN3 due to a stop codon polymorphism at position 577. If you continue, we'll assume that you are happy to receive all cookies. Expression of ACTN3 in cancer tissue. α-actinin 3 protein is a major component of the Z-line, it connects with actin filaments to coordinate muscle contraction (Figure 1). These attributes are strongly influenced by our genetics, and if an individual doesnât have this genetic make-up it can reduce their chances of becoming an elite l⦠Alpha-actinin-3, also known as alpha-actinin skeletal muscle isoform 3 or F-actin cross-linking protein, is a protein that in humans is encoded by the ACTN3 gene.. Alpha-actinin is an actin-binding protein with multiple roles in different cell types.This gene expression is limited to skeletal muscle. Gene expression databases. The fast twitch muscle fibers are powered by glucose, providing power and speed. ACTN3 - Explore an overview of ACTN3, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data. The ability for an individual to have correct muscular force velocity for power performance, or on the contrary, increased oxygenation of muscles for an endurance performance is crucial for the athlete to be a master in their field. FTO gene Study (FTO fat gene) The FTO genotype (rs9939609) has been termed the âfat gene.âThis is because it encodes an enzyme (fat mass and obesity-associated protein, also known as alpha-ketoglutarate-dependent dioxygenase FTO) that is positively linked to obesity; individuals who have it are 70% more likely to become obese. Homozygosity for a premature stop codon (X) in the ACTN3 âsprinterâ gene is common in humans despite the fact that it reduces muscle size, strength and power. Reports 629 Figure 1 ACTN3 genotype frequency in controls, elite sprint/power athletes, and endurance athletes. One gene potentially associated with human physical performance is the ACTN3 gene, which encodes the protein >-actinin-3. Introduction. ACTN3 Gene. Dr. North was surprised to find healthy people that completely lacked a functional gene. CC and CT genotypes of the ACTN3 gene provide the ability to produce the protein α-actinin-3, which is included in the construction of fast twitch muscle fibres. ACTN3 is expressed in fast twitch muscle fibers while the second gene, ACTN2, is expressed in all skeletal muscle fibers (2). Legend Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. doi: 10.1371/journal.pone.0150594. Because of the close relationship between skeletal muscle function and cardiometabolic health we examined the influence of ACTN3 R577X polymorphism over cardiovascular and metabolic characteristics of young adults (n = ⦠ACTN3 is expressed in fast twitch muscle fibers while the second gene, ACTN2, is expressed in all skeletal muscle fibers . ACTN3 is a genetic modifier of Duchenne muscular dystrophy. The alpha actinin 3 protein is found almost exclusively in the fast twitch fibers. Individuals lacking the variant gene have the R/R genotype whereas those possessing the mutation can have ⦠Both the Actn3 KO mouse model and ACTN3 577XX humans express no α-actinin-3 with the closely related protein α-actinin-2 expressed across all fibre types. A common polymorphism in this gene is ⦠Gene target information for ACTN3 - actinin alpha 3 (gene/pseudogene) (human). The To characterize the phenotypic consequences of a-actinin-3 R577X polymorphism is associated with elite athlete status deficiency, we have generated an Actn3 knockout mouse line and human muscle performance, suggesting that a-actinin-3 (Fig. View all variants in gene ACTN3; Full data view for gene ACTN3; Unique variants in gene ACTN3. Alpha-actinin-3 also seems to have an influencing role in muscle energy metabolism which together creates a cellular environment that enables a high muscular capacity for power and speed. The absence of a functional ACTN3 expression is not correlated with a ⦠Name Gene Symbol Rec Full Name Protein Information Quick Quote Price, Turnaround; ACTN3_HUMAN, Homo sapiens (human): ACTN3: F-actin cross-linking protein: Functions Genetic Practice Guidelines: Gene As guidelines are identified that relate to a disorder, gene, or variation, staff at NCBI connect them to the appropriate records. ACTN3 is a gene that encodes for alpha-actinin-3, a protein expressed only in type-II muscle ï¬bers ( North et al., 1999 ). Expression of ACTN3 in cancer tissue. Projects. More information. The cancer tissue page shows antibody staining of the protein in 20 different cancers. The ACTN3 gene encodes the alpha-actinin-3 protein which is present in fast-twitch muscle fibers. The higher expression of α-actinin-2 is likely to partially compensate for the loss of α-actinin-3. The expression of α-actinin-2 is also up-regulated in the Actn3 KO mouse. The fast twitch muscle fibers are powered by glucose, providing power and speed. But what does it mean for those ⦠ACTN3 is a gene that encodes α-Actinin-3, which is a protein that produces powerful contractions in glycolitic type II skeletal muscle fibres (MacArthur and North, 2004). ACTN3 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, ACTN3 Genome Browser, ACTN3 References. ACTN3 SPORTS GENE TEST KIT 02 of 10 INTRODUCTION The human ACTN3 gene encodes É-actinin-3, an actin binding protein that plays an important role in muscle structure and metabolism. There is a variant form of the ACTN3 gene which has a single base substitution in the DNA and is referred to as R577X.
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