ACTN2 Gene - GeneCards | ACTN2 Protein | ACTN2 Antibody
2024年12月24日 · ACTN2 (Actinin Alpha 2) is a Protein Coding gene. Diseases associated with ACTN2 include Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular …
Alpha-actinin-2 - Wikipedia
Alpha-actinin-2 is a protein which in humans is encoded by the ACTN2 gene. [5] This gene encodes an alpha-actinin isoform that is expressed in both skeletal and cardiac muscles and …
Mutation update for the ACTN2 gene - PMC - PubMed Central …
ACTN2 encodes alpha‐actinin‐2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z‐disk, functions as a link between the anti‐parallel actin …
ACTN2 actinin alpha 2 [Homo sapiens (human)] - Gene - NCBI
Fine mapping and genomic structure of ACTN2, the human gene coding for the sarcomeric isoform of alpha-actinin-2, expressed in skeletal and cardiac muscle. Tiso N, et al. Biochem …
A transcriptional enhancer regulates cardiac maturation
2024年5月30日 · Alpha-actinin 2 (ACTN2) levels increase during CM maturation. In this study, we investigated a clinically relevant, conserved ACTN2 enhancer’s effects on CM maturation …
Mutation update for the ACTN2 gene - PubMed
ACTN2 encodes alpha-actinin-2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z-disk, functions as a link between the anti-parallel actin …
ACTN2 variant associated with a cardiac phenotype suggestive of …
Variants in the alpha-actinin-2 (ACTN2) gene have been associated with different cardiac manifestations, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), …
Cardiac ACTN2 enhancer regulates cardiometabolism and
2024年5月30日 · A study describes the role of the ACTN2 enhancer in myocardial maturation, highlighting its relevance in regulating structural, functional and metabolic dynamics in the heart.
Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy:
A missense mutation, Ala119Thr, in the alpha-actinin-2 (ACTN2)gene was identified that segregated with disease in the family. An additional 297 HCM probands were screened for …
ACTN2 actinin alpha 2 - NIH Genetic Testing Registry (GTR) - NCBI
2024年3月31日 · Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms. Genome-wide association and multi-omic …