Gene Symbol | ACTN2 |
Entrez Gene ID | 88 |
Full Name | actinin alpha 2 |
Synonyms | CMD1AA,CMH23 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, May 2013]. |
Disorder MIM: | |
Disorder Html: | Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3); Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3) |