Spectrin repeat containing nuclear envelope protein 1 (Nesprin-1 (also SYNE1))

Nesprin-1 (spectrin repeat containing nuclear envelope protein 1) is a giant, multi-isomeric protein located primarily at the outer nuclear membrane, functioning as a scaffolding and structural link between the cytoskeleton and the nuclear envelope. It is a component of the LINC complex, which coordinates nuclear positioning, integrity, and mechanical signaling. Nesprin-1 is ubiquitously expressed, with various tissue-specific isoforms generated via alternative splicing. Mutations in the SYNE1 gene are associated with autosomal recessive cerebellar ataxia and muscular dystrophies, with increasing evidence for distinct roles in muscle and neuronal function. Research suggests isoform-specific disruption may contribute to disease phenotypes such as nuclear mispositioning and altered cell morphology. As of now, Nesprin-1 is not a direct pharmacological or therapeutic target, but it is important in understanding the molecular basis of several inherited diseases

Other names

Nesprin-1SYNE1Synaptic nuclear envelope protein 1