Immunohistochemical staining (Formalin-fixed paraffin-embedded sections) of human skeletal muscle with SYNE1 polyclonal antibody (Cat # PAB30804) shows strong cytoplasmic and nuclear membranous positivity in myocytes.
Immunofluorescent staining of U-251 MG with SYNE1 polyclonal antibody (Cat # PAB30804) (Green) shows positivity in nuclear membrane and nucleus but excluded from the nucleoli.
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq