SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) encodes a nesprin-1 protein involved in nuclear envelope organization and cytoskeletal linkages. Mutations in SYNE1 are associated with autosomal recessive cerebellar ataxia (ARCA1) and Emery-Dreifuss muscular dystrophy.
{{ infobox .infobox-gene [1]
| gene = SYNE1 [2]
| name = Spectrin Repeat Containing Nuclear Envelope Protein 1
| chromosome = 6q25.1
| ncbi_gene_id = 23345
| ensembl = ENSG00000188352
| omim = 608441
| uniprot = Q8NF91
| diseases = Autosomal Recessive Spinocerebellar Ataxia (SCAR8), Hereditary Spastic Paraplegia
}}
SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1), also known as Nesprin-1, is a giant protein localized to the nuclear envelope. It is a core component of the Linker of Nucleoskeleton and Cytoskeleton (LINC) complex. SYNE1 functions in:
The LINC complex (composed of Nesprin-1/SYNE1 and Nesprin-2/SYNE2 with SUN domain proteins) is essential for nuclear positioning and intracellular signaling in neurons.
SYNE1 mutations cause autosomal recessive spinocerebellar ataxia type 8, characterized by:
SYNE1 mutations can also cause hereditary spastic paraplegia with cerebellar involvement:
Some SYNE1 variants cause autosomal dominant muscular dystrophy with:
SYNE1 is expressed in multiple tissues:
The expression pattern explains both the cerebellar and muscular phenotypes in SYNE1-related disorders.
lex and neuronal function](https://pubmed.ncbi.nlm.nih.gov/25856672/) - Role of SYNE1 in neurons