ACTA1
actin, alpha 1, skeletal muscle
The product encoded by ACTA1 gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity.
Alpha (ACTAs), beta (ACTBs) and gamma (ACTGs) actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility.
ACTA1 actin is an alpha actin that is found in skeletal muscle.
GeneRIFs (February 2010)
Data identify a novel signaling pathway in the endocrine L cell, whereby Cdc42 regulates actin remodeling, activation of the cannonical 1/2-ERK1/2 pathway and PAK1, and GLP-1 secretion in response to insulin.
description of 177 different disease-causing ACTA1 mutations, including 85 that have not been described before
Actin, likely modulated by the GTPases RhoA and Cdc42 and by bacterial proteins, is involved in the formation of the typical parasitophorous vacuole.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Congenital myopathy-causing ACTA1 mutations
The disappearance of CD34-positive stromal cells and appearance of alpha-SMA-positive stromal myofibroblasts may be associated with transformation of cervical cervical intraepithelial neoplasias to squamous cell carcinomas.
Low plasma gelsolin and detectable circulating actin identify chronic hemodialysis patients at highest risk for 1-year mortality.
Progressive immobilization of Fc epsilon RI during aggregation was sensitive to syk or actin polymerization inhibition. Therefore, desensitization is also not dependent on receptor immobilization.
Circulating actin are associated with early sepsis.
Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H).
Regulation of skeletal alpha-actin by androgens/SARMs may represent an important model system for understanding androgen anabolic action in the muscle.
Observational study of gene-disease association. (HuGE Navigator)
ACTA1 congenital fiber type disproportion (CFTD) mutations may cause weakness by disrupting sarcomere function rather than structure.
IGF-I-induced activation of the skeletal alpha-actin promoter is regulated by the L-type VGCC and calcineurin but independent of nuclear factor of activated T-cell transcriptional activity as C2C12 myoblasts differentiate into myotubes.
Two csae of nemaline myopathy showed novel mutations in the skeletal muscle aphaa-actin gene, one had g268d mutation and other had mutation, K373E.
Missense mutations of ACTA1 cause an autosomal dominant congenital myopathy with cores.
A heterozygous GTG-ATG mutation (Val163Met) was found in exon 4 of ACTA1 in affected individuals with nemaline myopathy with intranuclear rods.
Results describe clinical and pathological features associated with 29 alpha-actin (ACTA1) mutations found in 38 individuals with nemaline myopathy from 28 families.
Three heterozygous missense mutations of the skeletal muscle alpha actin gene (ACTA1) in three unrelated cases of congenital fiber type disproportion (CFTD) from Japan and Australia.
Enhanced expression of alpha skeletal muscle actin is associated with liver metastases from gastrointestinal tumours
Actin-related myopathy may occur without any missense mutation in the ACTA1 gene
Three patients with severe nemaline myopathy and mutations of the ACTA1 stop codon: TAG>TAT (tyrosine), TAG>CAG (glutamine) and TAG>TGG (tryptophan).
Pathology
Germline mutations in ACTA1 gene cause diseases that lead to muscle fiber defects
- nemaline myopathy type 3
- congenital myopathy with excess of thin myofilaments
- congenital myopathy with cores
- congenital myopathy with fiber-type disproportion