GENETIC ENCYCLOPEDIA
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gene: ACTN2

id88
symbolACTN2
organismHomo sapiens
full nameactinin alpha 2
summaryAlpha 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]
variant-disease

NM_001103.3(ACTN2):c.1361A>C (p.His454Pro) AND not specified

NM_001103.3(ACTN2):c.1484C>T (p.Thr495Met) AND Familial hypertrophic cardiomyopathy 23

NM_001103.3(ACTN2):c.1532T>C (p.Leu511Pro) AND not provided

NM_001103.3(ACTN2):c.2552G>A (p.Arg851His) AND not provided

NM_001103.3(ACTN2):c.1657-16T>C AND not specified

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