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The official name of this gene is “spectrin repeat containing, nuclear envelope 1.”
SYNE1 is the gene's official symbol. The SYNE1 gene is also known by other names, listed below.
The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. The Syne-1 protein plays a role in the maintenance of the part of the brain that coordinates movement (the cerebellum). The Syne-1 protein is active (expressed) in Purkinje cells, which are located in the cerebellum and are involved in chemical signaling between nerve cells (neurons). The protein is thought to attach the membrane of Purkinje cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. It is not clear what role this attachment plays in Purkinje cell function.
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.
Cytogenetic Location: 6q25
Molecular Location on chromosome 6: base pairs 152,442,818 to 152,958,533
The SYNE1 gene is located on the long (q) arm of chromosome 6 at position 25.
More precisely, the SYNE1 gene is located from base pair 152,442,818 to base pair 152,958,533 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about SYNE1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
actin ; ataxia ; autosomal ; autosomal recessive ; cell ; cerebellum ; cytoskeleton ; expressed ; gene ; nuclear envelope ; protein ; Purkinje cells ; recessive
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.