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Cancer tissues displayed moderate to strong cytoplasmic and membranous positivity. Several renal cancers were weakly stained or negative.
GENE INFORMATION
Gene name
ACTN3
Synonyms
Description
Actinin, alpha 3 (gene/pseudogene) (HGNC Symbol)
Entrez gene summary
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 represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]
GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005903 [brush border] GO:0006936 [muscle contraction] GO:0014728 [regulation of the force of skeletal muscle contraction] GO:0014732 [skeletal muscle atrophy] GO:0014883 [transition between fast and slow fiber] GO:0014894 [response to denervation involved in regulation of muscle adaptation] GO:0030017 [sarcomere] GO:0030018 [Z disc] GO:0031448 [positive regulation of fast-twitch skeletal muscle fiber contraction] GO:0045820 [negative regulation of glycolytic process] GO:0048633 [positive regulation of skeletal muscle tissue growth] GO:0048743 [positive regulation of skeletal muscle fiber development] GO:0060349 [bone morphogenesis] GO:0070885 [negative regulation of calcineurin-NFAT signaling cascade] GO:0090257 [regulation of muscle system process] GO:0090324 [negative regulation of oxidative phosphorylation] GO:1900159 [positive regulation of bone mineralization involved in bone maturation] GO:1901078 [negative regulation of relaxation of muscle] GO:1903715 [regulation of aerobic respiration] GO:1904025 [positive regulation of glucose catabolic process to lactate via pyruvate]
