Recombinant Mouse Spectrin Alpha Chain, Non-Erythrocytic 1 (Sptan1), N-His

Mouse Spectrin Alpha Chain, Non-Erythrocytic 1 (Sptan1) is a key component of the membrane cytoskeleton in non-erythrocytic cells. It interacts with βII and βIII spectrins to form heterodimers, which are essential for maintaining the structural integrity of the cell membrane and cytoskeleton. Sptan1 plays a crucial role in various cellular processes, including cell adhesion, migration, and mechanical stability. It is particularly important in the nervous system, where it supports the structure and function of neurons and glial cells. Sptan1 is involved in the formation and maintenance of the axon initial segment, which is critical for action potential initiation and propagation. Additionally, Sptan1 contributes to the organization of the cytoskeleton at synapses, influencing synaptic structure and function. Mutations in the Sptan1 gene have been associated with a spectrum of neurodevelopmental disorders, including infantile epileptic encephalopathy, intellectual disability, and progressive cerebellar and brainstem atrophy. These mutations often lead to the formation of spectrin aggregates, disrupting the cytoskeletal scaffold and impairing neuronal function. Research on Sptan1 has focused on understanding its role in these disorders and exploring potential therapeutic strategies.