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SYNE1 Antigen Profile
Beschreibung des Gens
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.
Alternative names and synonyms associated with SYNE1
spectrin repeat containing nuclear envelope protein 1 (SYNE1) ELISA Kit