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Genetics Home Reference: your guide to understanding genetic conditions
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SYNE1

Reviewed October 2010

What is the official name of the SYNE1 gene?

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.

What is the normal function of the SYNE1 gene?

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.

How are changes in the SYNE1 gene related to health conditions?

autosomal recessive cerebellar ataxia type 1 - caused by mutations in the SYNE1 gene

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.

Where is the SYNE1 gene located?

Cytogenetic Location: 6q25

Molecular Location on chromosome 6: base pairs 152,121,683 to 152,637,398

The SYNE1 gene is located on the long (q) arm of chromosome 6 at position 25.

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 152,121,683 to base pair 152,637,398 on chromosome 6.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SYNE1?

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.

What other names do people use for the SYNE1 gene or gene products?

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SYNE1?

actin ; ataxia ; autosomal ; autosomal recessive ; cell ; cerebellum ; cytoskeleton ; expressed ; gene ; myocyte ; 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).

References

  • Dupré N, Gros-Louis F, Chrestian N, Verreault S, Brunet D, de Verteuil D, Brais B, Bouchard JP, Rouleau GA. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol. 2007 Jul;62(1):93-8. (http://www.ncbi.nlm.nih.gov/pubmed/17503513?dopt=Abstract)
  • Gene Review: SYNE1-Related Autosomal Recessive Cerebellar Ataxia (http://www.ncbi.nlm.nih.gov/books/NBK1379)
  • Gros-Louis F, Dupré N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet. 2007 Jan;39(1):80-5. Epub 2006 Dec 10. (http://www.ncbi.nlm.nih.gov/pubmed/17159980?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/23345)
  • OMIM: SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 1 (http://omim.org/entry/608441)

 

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.

 
Reviewed: October 2010
Published: December 16, 2014