Alpha Fodrin est un gène codé par le symbole SPTAN1. D'autres noms incluent: Spectrin alpha chain, non-erythrocytic 1; Alpha-II spectrin; Fodrin alpha chain; Spectrin, non-erythroid alpha subunit; SPTAN1; NEAS; SPTA2. Alpha Fodrin a une masse de 284.54kDa, une longueur d'acide aminé de 2472, et est impliqué dans Epileptic encephalopathy, early infantile, 5.
Nous proposons 12 des anticorps contre Alpha Fodrin, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC et ICC/IF avec des échantillons dérivés de Humain, Souris, Rat et Bovin.
Informations sur les Gènes et les Protéines
Résumé UniProt
Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.
Résumé Entrez
Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.
Implication dans la maladie
Epileptic encephalopathy, early infantile, 5: A disorder characterized by seizures associated with hypsarrhythmia, profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia.
Similitudes de séquence
Belongs to the spectrin family.
Modification post-traductionnelle
Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro.
Localisation cellulaire
Cytoplasm > Cytoskeleton. Cytoplasm > Cell cortex.
Expressed along the cell membrane in podocytes and presumptive tubule cells during glomerulogenesis and is expressed along lateral cell margins in tubule cells.
