Anti-alpha-SMA

ACTA2 (Actin, Alpha 2, Smooth Muscle, Aorta) is a Protein Coding gene. Diseases associated with ACTA2 include Multisystemic Smooth Muscle Dysfunction Syndrome and Moyamoya Disease 5. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and GPCR Pathway. GO annotations related to this gene include protein kinase binding. An important paralog of this gene is ACTG2. 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. ACTA1 (Actin, Alpha 1, Skeletal Muscle) is a Protein Coding gene. Diseases associated with ACTA1 include Nemaline Myopathy 3, Autosomal Dominant Or Recessive and Myopathy, Congenital, With Fiber-Type Disproportion. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and GPCR Pathway. GO annotations related to this gene include structural constituent of cytoskeleton and myosin binding. An important paralog of this gene is ACTC1.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. ACTG2 (Actin, Gamma 2, Smooth Muscle, Enteric) is a Protein Coding gene. Diseases associated with ACTG2 include Visceral Myopathy and Chronic Intestinal Pseudoobstruction. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and GPCR Pathway. An important paralog of this gene is ACTA2.Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2, a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides. ACTG1 (Actin Gamma 1) is a Protein Coding gene. Diseases associated with ACTG1 include Baraitser-Winter Syndrome 2 and Deafness, Autosomal Dominant 20/26. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and Development VEGF signaling via VEGFR2 - generic cascades. GO annotations related to this gene include identical protein binding and structural constituent of cytoskeleton. An important paralog of this gene is ACTB.Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss. Alternative splicing results in multiple transcript variants. ACTC1 (Actin, Alpha, Cardiac Muscle 1) is a Protein Coding gene. Diseases associated with ACTC1 include Cardiomyopathy, Dilated, 1R and Atrial Septal Defect 5. Among its related pathways are HOP Signaling and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. GO annotations related to this gene include ATPase activity and myosin binding. An important paralog of this gene is ACTA1.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). Protein function: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. [The UniProt Consortium]