We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
All malignant cells were negative. Distinct immunoreactivity was observed in muscle cells of tumor stroma.
GENE INFORMATION
Gene name
ACTA1 (HGNC Symbol)
Synonyms
ACTA, NEM3
Description
Actin, alpha 1, skeletal muscle (HGNC Symbol)
Entrez gene summary
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma 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. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008]