Products

Western Blot

Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections)

Entrez GeneID

Gene Name

ACTA1

Gene Alias

ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3

Gene Description

actin, alpha 1, skeletal muscle

Omim ID

Gene Ontology

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

Other Designations

OTTHUMP00000036123|alpha skeletal muscle actin

Entrez GeneID

Gene Name

ACTA2

Gene Alias

AAT6, ACTSA

Gene Description

actin, alpha 2, smooth muscle, aorta

Omim ID

Gene Ontology

Gene Summary

The protein 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. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq

Other Designations

OTTHUMP00000020042|alpha 2 actin|alpha-cardiac actin|growth-inhibiting gene 46

Entrez GeneID

Gene Name

ACTC1

Gene Alias

ACTC, CMD1R, CMH11

Gene Description

actin, alpha, cardiac muscle 1

Omim ID

Gene Ontology

Gene Summary

Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq

Other Designations

cardiac muscle alpha actin 1