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ACTN2 actinin alpha 2

Gene ID: 88, updated on 28-Oct-2024
Gene type: protein coding
Also known as: MPD6; CMH23; CMYO8; CMYP8; CMD1AA; MYOCOZ

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]

Genomic context

Location:
1q43
Sequence:
Chromosome: 1; NC_000001.11 (236686499..236764631)
Total number of exons:
23

Links

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