LMNA

核纖層卵白 A / C（英語：Lamin A / C）是由人類基因 _ LMNA _ 編碼的卵白質，屬於核層卵白家族。

功能

核纖層是真核生物細胞核中佮內核膜內底的網路片重結構。其核纖層卵白家族佇咧進化中高度的保守。佇咧有絲分裂過程中，核纖層卵白磷酸化，核纖層解聚（這過程是可逆的）。 Lamin 卵白質被認為佮細胞核的穩定性、染色質的結構佮基因的表達有關係 . Vertebrate lamins consist of two types , A and B . Through alternate splicing , this gene encodes three type A lamin isoforms .

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 LAP 一 . 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 .

臨床的意義

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 .

互相作用

LMNA has been shown to interact with :

外部連結

• 醫學主題詞表（MeSH）： _ LMNA + protein , + human _
• LOVD mutation database : LMNA