ACTN3
- Known as:
- ACTN3
- Catalog number:
- 001098A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ACTN3
Related genes to: ACTN3
- Gene:
- ACTN3 NIH gene
- Name:
- actinin alpha 3 (gene/pseudogene)
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 11q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1991-07-16
- Date modifiied:
- 2019-01-10
Related products to: ACTN3
Related articles to: ACTN3
- To investigate whether polymorphisms in collagen Type V alpha 1 chain (COL5A1), actinin alpha 3 (ACTN3) and angiotensin-converting enzyme (ACE) are associated with susceptibility to anterior cruciate ligament (ACL) and medial collateral ligament (MCL) injuries in professional football players. - Source: PubMed
Publication date: 2026/04/20
Saita YoshitomoYamamoto NanakoMiyamoto-Mikami EriOhtaki TakayaIzawa HidenoriFukushima YoshifumiIshijima MuneakiFuku Noriyuki - - Source: PubMed
Publication date: 2026/04/10
Veena K MHasil V MohammedHussain Mohammad AmjadLaha SuparnaDas RanajitShenoy PrashanthChatra LaxmikanthPrabhu RachanaShetty Prathima - Vitamin D has been implicated in cellular aging through its effects on telomere maintenance, but the extent of its influence on leukocyte telomere length (LTL), telomerase activity (TA), and interactions with aging-related genetic polymorphisms remains underexplored in Asian Indians with prediabetes. This study investigated the relationship between serum vitamin D levels, LTL, TA, and variants in aging-associated genes- - Source: PubMed
Publication date: 2026/03/24
Bhatt Surya PrakashKhurana AmishaPandey ShivamMisra Anoop - The ACTN3 gene encodes a sarcomeric α-actinin-3 protein, which forms an anti-parallel dimer and constitutes the Z-lines in human skeletal muscle fast-twitch fibers. In human ACTN3, a nonsense mutation that replaces a CGA codon for the 577th arginine (R) residue with a TGA premature termination codon (PTC; specified as X) produces the R577X polymorphism. Since ACTN3 577X mRNA is targeted and degraded by a cellular nonsense-mediated mRNA decay (NMD) system, individuals with the homozygous ACTN3 577XX genotype do not express α-actinin-3 protein in the muscles, resulting in a decrease in speed-oriented athletic performance and muscle mass. The PTC has been a target for translational readthrough using aminoglycoside antibiotics, which enable the full-length α-actinin-3 protein to be produced from the ACTN3 577X gene. However, this effect requires a supraphysiological dose (mM levels) and supportive NMD inhibition. Using expression plasmids and HEK293 cultured cells, in this paper I show that 2,6-diaminopurine (DAP), a recently identified natural compound with translational readthrough activity, can produce a full-length α-actinin-3 protein from the ACTN3 577X gene even when used alone and at a relatively low concentration (µM levels). Most ACTN3 577X alleles likely contain three missense mutations (Q523R, R628C, and R776Q). Full-length α-actinin-3 proteins derived from the ACTN3 577X gene formed more homodimers than α-actinin-3 proteins derived from the ACTN3 577R gene. These results indicate that DAP-induced translational readthrough has the potential to restore function to the lost gene ACTN3 577X in humans. - Source: PubMed
Publication date: 2026/04/03
Harada Nagakatsu - Oral Submucous Fibrosis (OSMF) is a significant global oral health problem, particularly prevalent in India, with a high risk of progression to Oral Squamous Cell Carcinoma (OSCC). This study investigates the molecular mechanisms involved in the transformation of OSMF to OSCC using transcriptomic profiling. High-throughput RNA sequencing was performed on fresh de novo OSCC samples ( = 8) and OSMF derived OSCC using Illumina-compatible NEXTflex Rapid Directional RNA Sequencing. Normalization and differential gene expression analysis were conducted, and genes exhibiting an absolute log2 fold change of ≥2 with a co-variate-adjusted -value ≤ 0.05 were identified as significant. Upregulated genes were associated with cytokine and immune responses (ABRA, TTTY14, EIF1AY), cellular proliferation and apoptosis (LINC00314, RPS4Y1, SERPINA5, TRIM63, FABP7), and energy metabolism, indicating metabolic adaptations during malignant progression. Pathway analysis showed increased expression of TNNT1, TNNI1, MYL4, and ACTN3, implicating muscle development and embryonic pathways in OSMF transformation. Conversely, genes related to epithelial differentiation and keratinization (FLG, FLG2, HRNR, TCHH, KRT73), immune regulation and tumor suppression (HLA-G, UNC5D), and metabolic signaling were downregulated, reflecting loss of tissue integrity and immune control. OSMF-derived OSCC exhibits a distinct transcriptomic landscape compared with de novo OSCC, characterized by altered epithelial differentiation, immune modulation, and activation of developmental pathways. The observed gene dysregulation findings establish that OSCC developing in the background of OSMF is molecularly distinct from de novo OSCC, underscoring the biological impact of the pre-existing fibrotic milieu on tumor transcriptional architecture. - Source: PubMed
Publication date: 2026/03/10
Prasad KavithaSamudrala Venkatesiah SowmyaAugustine DominicAnand Ananya AnuragKaryala PrashanthiDasharathy SukeerthiRao Roopa SChaki Soma