LMNA

核纤层蛋白 A/C（英語：Lamin A/C）是由人类基因LMNA 编码的蛋白质，属于核纤层蛋白家族。 核纖層是真核生物细胞核中附于内核膜（英语：inner nuclear membrane）内侧的网络片层结构。其核纤层蛋白家族在进化中高度保守。在有絲分裂过程中，核纤层蛋白磷酸化，核纖層解聚（这一过程是可逆的）。Lamin蛋白質被認為與細胞核的穩定性、染色質的結構與基因的表達有關. 脊椎動物的核纖層蛋白包含A和B兩種形式。人類Lamin A/C基因透過選擇性剪接可以產生出三種A型異構體。 Early in mitosis, MPF phosphorylates specific serine residues in all three nuclear lamins, causing depolymerization of the lamin intermediate filaments. The phosphorylated lamin B dimers remain associated with the nuclear membrane via their isoprenyl anchor. Lamin A is targeted to the nuclear membrane by an isoprenyl group but it is cleaved shortly after arriving at the membrane. It stays associated with the membrane through protein-protein interactions of itself and other membrane associated proteins, such as LAP1. Depolymerization of the nuclear lamins leads to disintegration of the nuclear envelope. Transfection experiments demonstrate that phosphorylation of human lamin A is required for lamin depolymerization, and thus for disassembly of the nuclear envelope, which normally occurs early in mitosis. Mutations in the LMNA gene are associated with several diseases, including Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, Restrictive dermopathy and Hutchinson-Gilford progeria syndrome. A truncated version of lamin A, commonly known as progerin, causes Hutchinson-Gilford progeria syndrome. LMNA has been shown to interact with: ALOX12 EMD NARF SREBF1 TMPO ZNF239 SIRT1 Kamat AK, Rocchi M, Smith DI, Miller OJ. Lamin A/C gene and a related sequence map to human chromosomes 1q12.1-q23 and 10. Somat. Cell Mol. Genet. March 1993, 19 (2): 203–8. PMID 8511676. doi:10.1007/BF01233534.  Wydner KL, McNeil JA, Lin F, Worman HJ, Lawrence JB. 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Seattle WA: University of Washington, Seattle. 1993– [2014-06-20]. （原始内容存档于2020-03-28）.  请检查|date=中的日期值 (帮助) 引文格式1维护：显式使用等标签 (link) Sparks, Susan; Quijano-Roy, Susana; Harper, Amy; Rutkowski, Anne; Gordon, Erynn; Hoffman, Eric P; Pegoraro, Elena. Congenital Muscular Dystrophy Overview. 23 August 2012 [2014-06-20]. PMID 20301468. NBK1291. （原始内容存档于2020-08-04）.  In GeneReviews Hershberger, Ray E; Morales, Ana. LMNA-Related Dilated Cardiomyopathy. 19 September 2013 [2014-06-20]. PMID 20301717. NBK1674. （原始内容存档于2019-02-17）.  In GeneReviews OMIM Cardiomyopathy, Dilated, 1A; CMD1A -115200 OMIM LAMIN A/C; LMNA -150330 Pegoraro, Elena; Hoffman, Eric P. Limb-Girdle Muscular Dystrophy Overview. 30 August 2012 [2014-06-20]. PMID 20301582. NBK1408. （原始内容存档于2020-11-14）.  In GeneReviewsGeneReviews/NCBI/NIH/UW entry on （页面存档备份，存于互联网档案馆） Bonne, Gisèle; Leturcq, France; Yaou, Rabah Ben. Emery-Dreifuss Muscular Dystrophy. 17 January 2013 [2014-06-20]. PMID 20301609. NBK1436. （原始内容存档于2020-12-01）.  In GeneReviews Gordon, Leslie B; Brown, W Ted; Collins, Francis S. Hutchinson-Gilford Progeria Syndrome. 6 January 2011 [2014-06-20]. PMID 20301300. NBK1121. （原始内容存档于2020-11-05）.  In GeneReviews Corchado, Johnny Cruz; Smith, Richard JH. Dense Deposit Disease/Membranoproliferative Glomerulonephritis Type II. 19 May 2011 [2014-06-20]. PMID 20301598. NBK1425. （原始内容存档于2020-12-01）.  In GeneReviews 醫學主題詞表（MeSH）：LMNA+protein,+human LOVD mutation database: LMNA （页面存档备份，存于互联网档案馆）