L’anticorps anti-SYNE1 Polyclonal produit chez le Lapin a été validé pour WB, IHC et IF. Il convient pour la détection de SYNE1 dans des échantillons provenant de Humain.
}
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.,8B, AMC3, AMCM, CPG2, ARCA1, EDMD4, KASH1, MYNE1, Nesp1, SCAR8, C6orf98, dJ45H2.2,SYNE1