SYNE1
spectrin repeat containing nuclear envelope protein 1
Normal Function
Health Conditions Related to Genetic Changes
Autosomal recessive cerebellar ataxia type 1
At least seven mutations in the SYNE1 gene have been found to cause autosomal recessive cerebellar ataxia type 1 (ARCA1). All the mutations that have been identified create a premature stop signal in the instructions for making the Syne-1 protein, resulting in an abnormally short protein with impaired function. A dysfunctional Syne-1 protein is thought to impair Purkinje cell function and disrupt signaling between neurons in the cerebellum. The loss of brain cells in the cerebellum causes the movement problems characteristic of ARCA1, but it is unclear how this cell loss is related to impaired Purkinje cell function.
More About This Health ConditionRelated Conditions
Autosomal recessive cerebellar ataxia type 1Emery-Dreifuss muscular dystrophy
Health Conditions Related to Genetic Changes
At least seven mutations in the SYNE1 gene have been found to cause autosomal recessive cerebellar ataxia type 1 (ARCA1). All the mutations that have been identified create a premature stop signal in the instructions for making the Syne-1 protein, resulting in an abnormally short protein with impaired function. A dysfunctional Syne-1 protein is thought to impair Purkinje cell function and disrupt signaling between neurons in the cerebellum. The loss of brain cells in the cerebellum causes the movement problems characteristic of ARCA1, but it is unclear how this cell loss is related to impaired Purkinje cell function.
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