免疫原
Purified recombinant human LMNA protein fragments expressed in E.coli.
特异性
This antibody detects endogenous levels of Lamin A/C and does not cross-react with related proteins.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
稀释比例
wb dilution 1:1000 icc dilution 1:200. IF 1:50-200
纯化工艺
The antibody was affinity-purified from mouse ascites by affinity-chromatography using epitope-specific immunogen.
其他名称
70 kDa lamin ; Cardiomyopathy dilated 1A (autosomal dominant) ; CDCD1 ; CDDC ; CMD1A ; CMT2B1 ; EMD2 ; FPL ; FPLD ; FPLD2 ; HGPS ; IDC ; LAMIN A ; lamin A/C ; Lamin A/C like 1 ; Lamin ; LAMIN C ; Lamin-A/C ; LDP1 ; LFP ; LGMD1B ; Limb girdle muscular dystrophy 1B (autosomal dominant) ; LMN 1 ; LMN A ; LMN C ; LMN1 ; LMNA ; LMNA_HUMAN ; LMNC ; LMNL1 ; Prelamin A/C ; PRO1 ; Renal carcinoma antigen NY REN 32 ; Renal carcinoma antigen NY-REN-32 ; Renal carcinoma antigen NYREN32.
背景
lamin A/C(LMNA) Homo sapiens The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012],
功能
disease:Defects in LMNA are a cause of Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]. EDMD2 is an autosomal dominant disorder characterized by slowly progressive muscle wasting and weakness, early contractures of the elbows Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.,disease:Defects in LMNA are a cause of Emery-Dreifuss muscular dystrophy type 3 (EDMD3) [MIM:604929]. EDMD3 is an autosomal recessive disorder characterized by early contractures, muscle wasting and weakness and cardiomyopathy.,disease:Defects in LMNA are a cause of familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]; also known as familial partial lipodystrophy Dunnigan type. FPLD2 is an autosomal dominant disorder characterized by marked loss of subcutaneous adipose tissue from the extremities and trunk but by excess fat deposition in the head and neck.
