Nesprin 1 (NESP1) ELISA Kit for Donkey

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, Jul 2008]

SYNE1: Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. Component of SUN-protein- containing multivariate complexes also called LINC complexes which link the nucleoskeleton and cytoskeleton by providing versatile outer nuclear membrane attachment sites for cytoskeletal filaments. May be involved in the maintenance of nuclear organization and structural integrity. Connects nuclei to the cytoskeleton by interacting with the nuclear envelope and with F- actin in the cytoplasm. May be required for centrosome migration to the apical cell surface during early ciliogenesis. Defects in SYNE1 are the cause of spinocerebellar ataxia autosomal recessive type 8 (SCAR8); also known as autosomal recessive cerebellar ataxia type 1 (ARCA1) or recessive ataxia of Beauce. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form. Defects in SYNE1 are the cause of Emery-Dreifuss muscular dystrophy type 4 (EDMD4). A degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. Belongs to the nesprin family. 9 isoforms of the human protein are produced by alternative splicing.

Protein type: RNA-binding; Membrane protein, integral; Actin-binding

Chromosomal Location of Human Ortholog: 6q25

Cellular Component: nucleoplasm; Golgi apparatus; postsynaptic membrane; nuclear outer membrane; sarcomere; nuclear membrane; cytoskeleton; cytoplasm; integral to membrane; nuclear envelope; nucleus

Molecular Function: actin filament binding; protein binding; protein homodimerization activity; actin binding; lamin binding

Biological Process: muscle cell differentiation; establishment of nucleus localization; Golgi organization and biogenesis; nuclear organization and biogenesis

Disease: Emery-dreifuss Muscular Dystrophy 4, Autosomal Dominant; Spinocerebellar Ataxia, Autosomal Recessive 8