spectrin repeat containing nuclear envelope protein 1
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A 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.
Normal function
A 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.
Conditions referring to this gene or chromosome
Other names
ARCA1
MYNE1
myocyte nuclear envelope protein 1
Nesp1
nesprin-1
nuclear envelope spectrin repeat protein 1
spectrin repeat containing, nuclear envelope 1
SYNE1_HUMAN
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Leitura adicional e referências
- spectrin repeat containing nuclear envelope protein 1; MedlinePlus, National Library of Medicine.
- Beaudin M, Gamache PL, Gros-Louis F, Dupre N. SYNE1 Deficiency. 2007 Feb 23 [updated 2018 Dec 6]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1379/
- Dupre 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. doi: 10.1002/ana.21143.
- Gros-Louis F, Dupre 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. doi: 10.1038/ng1927. Epub 2006 Dec 10.
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