ACTN2 gene

actinin alpha 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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. [provided by RefSeq, May 2013]

From UniProt:

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

Covered on Genetics Home Reference:

From NCBI Gene:

  • Dilated cardiomyopathy 1AA

From UniProt:

Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. [MIM:612158]

Myopathy, congenital, with structured cores and Z-line abnormalities (MYOCOZ): An autosomal dominant muscular disorder characterized by progressive early-onset muscle weakness, gait difficulties, loss of ambulation, and respiratory insufficiency. Morphological and ultrastructural analyses of muscle biopsies reveal type 1 fiber predominance, multiple structured cores forming a circular arrangement beneath the sarcolemma, and jagged Z-lines. [MIM:618654]

Myopathy, distal, 6, adult onset, autosomal dominant (MPD6): An autosomal dominant muscular disorder characterized by adult onset of asymmetric distal muscle weakness, primarily affecting the lower limbs and resulting in gait difficulties. Some patients develop involvement of proximal and upper limb muscles. [MIM:618655]

Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23): A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. [MIM:612158]

Cytogenetic Location: 1q43, which is the long (q) arm of chromosome 1 at position 43

Molecular Location: base pairs 236,686,454 to 236,764,631 on chromosome 1 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 1q43, which is the long (q) arm of chromosome 1 at position 43
  • CMD1AA
  • CMH23
  • MPD6