形式 |
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described.
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復(fù)溶 |
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. Liu Y, et al. Mol Psychiatry, 2010 Mar 30. PMID 20351715.Genome-wide association study of alcohol dependence implicates a region on chromosome 11. Edenberg HJ, et al. Alcohol Clin Exp Res, 2010 May. PMID 20201924.ESR1/SYNE1 polymorphism and invasive epithelial ovarian cancer risk: an Ovarian Cancer Association Consortium study. Doherty JA, et al. Cancer Epidemiol Biomarkers Prev, 2010 Jan. PMID 20056644.Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Attali R, et al. Hum Mol Genet, 2009 Sep 15. PMID 19542096.
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儲(chǔ)存溶液 |
Nesprin-1, Enaptin, Myocyte nuclear envelope protein 1, Myne-1, Nuclear envelope spectrin repeat protein 1, Synaptic nuclear envelope protein 1, Syne-1, SYNE1, C6orf98, KIAA0796, KIAA1262, KIAA1756, MYNE1
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