MyBioSource.com's Anti-SYNE1 Antibody, Rabbit Polyclonal is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Immunohistochemistry, and Immunohistochemistry - fixed.
Description
The spectrin repeat-containing nuclear envelope protein 1 (SYNE1) gene is located on chromosome 6q25 and contains 146 exons. The SYNE1 encodes nesprin-1, a scaffold protein that is involved in the binding between cytoskeleton, nuclear envelope and other subcellular compartments. The protein product is expressed in multiple tissues throughout the body, with an abundance in the cerebellum. The SYNE1 protein products, including the Nesprin-1 and Nesprin-2 isoforms, comprise of 2 N-terminal actin-binding regions with tandem paired calponin homology domains, transmembrane domain and spectrin repeats. SYNE1 deficiency comprises a phenotypic spectrum that ranges from autosomal recessive cerebellar ataxia at the mild end to arthrogryposis multiplex congenita (AMC) at the severe end