Anti-ACTN2 Antibody Picoband® Fluoro647 Conjugated

Alpha-actinin 2 is a protein which in humans is encoded by the ACTN2 gene. Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene.

Widely expressed with highest levels in heart, skeletal muscle, liver, adipose tissue, mammary gland, adrenal gland and colon (PubMed:9099716) . Isoform 3 is expressed in skeletal muscle, adipose tissue and liver (at protein level) (PubMed:19190759) . Isoform 3 is detected at high levels in adipose tissue with lower levels in heart, liver, skeletal muscle and testis (PubMed:19190759) .

Catalyzes the ATP-dependent carboxylation of acetyl-CoA to malonyl-CoA (PubMed:20457939, PubMed:19236960, PubMed:20952656) . Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase (PubMed:20457939, PubMed:19236960, PubMed:20952656) . Involved in inhibition of fatty acid and glucose oxidation and enhancement of fat storage (By similarity) . May play a role in regulation of mitochondrial fatty acid oxidation through malonyl-CoA-dependent inhibition of carnitine palmitoyltransferase 1 (By similarity) .

1. Bagnall, R. D., Molloy, L. K., Kalman, J. M., Semsarian, C. Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. BMC Med. Genet. 15: 99, 2014. Note: Electronic Article. 2. Beggs, A. H., Byers, T. J., Knoll, J. H. M., Boyce, F. M., Bruns, G. A. P., Kunkel, L. M. Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J. Biol. Chem. 267: 9281-9288, 1992. 3. Beggs, A. H., Phillips, H. A., Kozman, H., Mulley, J. C., Wilton, S. D., Kunkel, L. M., Laing, N. G. A (CA) n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. Genomics 13: 1314-1315, 1992.