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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.
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Protein Aliases: ATP-dependent RNA helicase DDX19; ATP-dependent RNA helicase DDX19B; DEAD (Asp-Glu-Ala-As) box polypeptide 19B; DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B; DEAD box protein 19B; DEAD box RNA helicase DEAD5; DEAD-box protein 5; DEAD-box RNA helicase DEAD5; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog); yeast Dbp5 homolog
Gene Aliases: 2810457M08Rik; 4921519L13Rik; AW260119; DBP5; DDX19; DDX19B; RNAh; TDBP
UniProt ID: (Human) Q9UMR2
Entrez Gene ID: (Human) 11269, (Mouse) 234733
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