alpha smooth muscle Actin è un gene codificato dal simbolo ACTA2. Altri nomi includono: Actin, aortic smooth muscle; Alpha-actin-2; Cell growth-inhibiting gene 46 protein; ACTA2; ACTSA; ACTVS. alpha smooth muscle Actin ha una massa di 42.01kDa, una lunghezza di amminoacidi di 377, ed è implicato nella malattia: Aortic aneurysm, familial thoracic 6; Moyamoya disease 5; Multisystemic smooth muscle dysfunction syndrome.
Offriamo 25 anticorpi contro alpha smooth muscle Actin, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF e Citometria a Flusso con campioni derivati da Umano, Topo, Ratto, Bovino, Maiale, Coniglio, Scimmia, Pecora, Pollo, Cane, Gatto, Goat, Porcellino d'India, Xenopus e Zebrafish.
Informazioni su geni e proteine
Riepilogo UniProt
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Sommario di Entrez
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome.
Coinvolgimento nella malattia
Aortic aneurysm, familial thoracic 6: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.
Moyamoya disease 5: A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults.
Multisystemic smooth muscle dysfunction syndrome: A syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.
Somiglianze di sequenza
Belongs to the actin family.
Modifica post-translazionale
Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promotes actin repolymerization.
Posizione cellulare
Cytoplasm > Cytoskeleton.
