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SYNE1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SYNE1 gene

The SYNE1 gene provides instructions for making the Syne-1 protein, which is essential for the structural integrity and function of cells in the cerebellum.

Overview

The SYNE1 gene provides instructions for making the Syne-1 protein. While found in many tissues, it is particularly critical in the brain, specifically within the cerebellum, the part of the brain that coordinates movement.

Syne-1 is active in Purkinje cells, which are neurons involved in chemical signaling. The protein is thought to attach the membrane of these cells to the actin cytoskeleton, a network of fibers that provides structural support to the cell.

Health Conditions Related to Genetic Changes

Autosomal recessive cerebellar ataxia type 1

At least seven mutations in the SYNE1 gene are known to cause autosomal recessive cerebellar ataxia type 1 (ARCA1).

  • Mechanism: Identified mutations create a premature stop signal, resulting in an abnormally short and dysfunctional Syne-1 protein.
  • Impact: This dysfunction is thought to impair Purkinje cell function and disrupt signaling between neurons in the cerebellum. The resulting loss of brain cells in this region leads to the movement problems characteristic of ARCA1.

Emery-Dreifuss muscular dystrophy

The SYNE1 gene is also associated with Emery-Dreifuss muscular dystrophy.

Other Names for This Gene

  • ARCA1
  • MYNE1
  • myocyte nuclear envelope protein 1
  • Nesp1
  • nesprin-1
  • nuclear envelope spectrin repeat protein 1
  • spectrin repeat containing, nuclear envelope 1
  • SYNE1_HUMAN

Frequently Asked Questions

The Syne-1 protein is crucial for anchoring the cell membrane of Purkinje neurons to the actin cytoskeleton, providing structural integrity. Mutations in the SYNE1 gene, such as those creating premature stop signals, result in a truncated, dysfunctional protein. This structural failure compromises the stability of the Purkinje cells, disrupting their ability to maintain proper shape and signaling connections with other neurons. The resulting cellular instability leads to the progressive loss of these critical motor coordination cells.
Currently, there is no cure for autosomal recessive cerebellar ataxia type 1. Management is supportive and focuses on improving quality of life and maintaining independence for as long as possible. This typically includes physical therapy to strengthen muscles and improve balance, occupational therapy to assist with daily activities, and speech therapy to address communication difficulties. Assistive devices such as walkers or wheelchairs may be necessary as the condition progresses.
RCA1 is characterized by progressive gait ataxia, which manifests as an unsteady, wide-based walk and difficulty with balance. Patients often experience limb ataxia, making fine motor tasks and coordination challenging. Other common symptoms include dysarthria (slurred speech), nystagmus (involuntary eye movements), and cognitive difficulties. The condition results from the loss of Purkinje cells in the cerebellum, leading to a gradual decline in motor control over time.
Diagnosis often begins with a clinical evaluation of neurological symptoms, including gait analysis and coordination tests. Brain imaging, such as MRI, may show atrophy of the cerebellum. However, a definitive diagnosis is confirmed through genetic testing that identifies biallelic pathogenic variants in the SYNE1 gene. This genetic confirmation is essential for distinguishing ARCA1 from other forms of ataxia and for providing accurate genetic counseling to the family regarding inheritance risks.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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