LMNA

核纤层蛋白 A/C（）是由人类基因LMNA 编码的蛋白质，属于核纤层蛋白家族。

功能

核纖層是真核生物细胞核中附于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.

臨床意義 

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.

與其他蛋白或基因的交互作用 

LMNA has been shown to interact with:

 ALOX12
 EMD
 NARF
 SREBF1
 TMPO
 ZNF239
 SIRT1

参考文献

延伸阅读

外部链接

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 In  GeneReviews/NCBI/NIH/UW entry on  
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 LOVD mutation database: LMNA 

位於1號人類染色體的基因