Recombinant Human Alpha-actinin-2 (ACTN2), Truncated

Uniprot Id

P35609

Target Species

Human

Target Name

ACTN2

Target Full Name

Alpha-actinin-2

Target Function

F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

Target Involvement

Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23); Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA)

Target Subcellular Location

Cytoplasm, myofibril, sarcomere, Z line. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.

Target Protein Families

Alpha-actinin family

Target Tissue Specificity

Expressed in both skeletal and cardiac muscle.

Target Synonyms

Actin binding protein; Actinin alpha 2; ACTN 2; ACTN2; ACTN2_HUMAN; Alpha actinin 2; Alpha actinin skeletal muscle; Alpha actinin skeletal muscle isoform 2; Alpha-actinin skeletal muscle isoform 2; Alpha-actinin-2; CMD1AA; F actin cross linking protein; F-actin cross-linking protein

Target Background

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.