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 (named sprinter gene, …

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 …

Feb 8, 2025 · Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.

Sep 9, 2007 · Here we show that loss of α-actinin-3 expression in a knockout mouse model results in a shift in muscle metabolism toward the more efficient aerobic pathway and an …

Feb 17, 2003 · We are currently studying the frequency of alleles and the pattern of genetic polymorphisms flanking the R577X locus in different human populations, to determine the …

Several investigations have found that α-actinin-3 deficiency due to XX homozygosity in the ACTN3 R577X polymorphism can negatively affect sports performance through several …

Dec 24, 2024 · ACTN3 (Actinin Alpha 3) is a Protein Coding gene. Diseases associated with ACTN3 include Actn3 Deficiency and Bruxism. Among its related pathways are Sertoli-Sertoli …

Nov 11, 2016 · Clinical resource with information about ACTN3, Actn3 deficiency, Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near …

To put the work on mechanism into context, it is helpful to review some of the basics of ACTN3 biology. The ACTN3 gene is only expressed in glycolytic, fast-twitch (type II) skeletal muscle …

Feb 8, 2025 · ACTN3 is one of many genes contributing to genetic variation in muscle performance and adaptation to exercise. Data report the crystal structure of the actin binding …