beta Actin è un gene codificato dal simbolo ACTB. Altri nomi includono: Actin, cytoplasmic 1; Beta-actin; ACTB. beta Actin ha una massa di 41.74kDa, una lunghezza di amminoacidi di 375, ed è implicato nella malattia: Dystonia, juvenile-onset; Baraitser-Winter syndrome 1.
Offriamo 30 anticorpi contro beta Actin, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF, Citometria a Flusso, IP, Dot e ChIP con campioni derivati da Umano, Topo, Ratto, Bovino, Maiale, Coniglio, Scimmia, Pecora, Pollo, Cane, Drosofila, Gatto, Porcellino d'India, Criceto e Zebrafish.
Informazioni su geni e proteine
Riepilogo UniProt
Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells (PubMed:29581253). Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction (PubMed:29581253). In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA (PubMed:29925947).
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 major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome.
Coinvolgimento nella malattia
Dystonia, juvenile-onset: A form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Patients with juvenile-onset dystonia manifest progressive, generalized, dopa-unresponsive dystonia, developmental malformations and sensory hearing loss.
Baraitser-Winter syndrome 1: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss.
Somiglianze di sequenza
Belongs to the actin family.
Modifica post-translazionale
ISGylated.
Posizione cellulare
Cytoplasm > Cytoskeleton. Nucleus.
Localized in cytoplasmic mRNP granules containing untranslated mRNAs.
