• 靶点：
• Actin, sarcomeric muscle

• 基因名称：
• ACTA1;ACTA;ACTC1;ACTC

• 蛋白名称：
• Actin, sarcomeric muscle

• Human Gene Id：
• 375/377

• Human Swiss Prot No：
• P68032

• 免疫原：
• Synthesized peptide derived from human Actin, sarcomeric muscle AA range:2-50

• 特异性：
• This antibody detects endogenous levels of Actin, sarcomeric muscle

• 组成：
• PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA

• 来源：
• Monoclonal, Rabbit IgG1, Kappa

• 稀释：
• IHC 1:100-500, WB 1:500-1000, ELISA 1:5000-20000

• 纯化工艺：
• Recombinant Expression and Affinity purified

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 其他名称：
• Actin, alpha skeletal muscle;Alpha-actin-1;ACTA1;Actin, alpha cardiac muscle 1;Alpha-cardiac actin;ACTC1

• 分子量：
• 42kDa

• 背景：
• The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008],

• 功能：
• disease:Defects in ACTA1 are a cause of congenital myopathy with excess of thin myofilaments (CM) [MIM:102610].,disease:Defects in ACTA1 are a cause of congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]; also known as congenital fiber-type disproportion myopathy (CFTDM). CFTD is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions.,disease:Defects in ACTA1 are the cause of nemaline myopathy type 3 (NEM3) [MIM:161800]. Nemaline myopathy (NEM) is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination. The clinical phenotype is highly variable, with differing age at onset and severity.,func

• 细胞定位：
• Cytoplasm, cytoskeleton.

• 组织表达：
• Epithelium,Skeletal muscle,

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