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ACTA1 (基因名), Actin, alpha skeletal muscle (蛋白名), acts_human.
产品名称:

Human ACTA1/ Actin, alpha skeletal muscle Recombinant Protein
骨骼肌肌动蛋白

货号:

R1634h

商标:
EIAab®
监管等级:
别名:

Alpha-actin-1, ACTA

序列号:
P68133
来源:
E.coli
种属:
Human
标签:
His
纯度:
>90% by SDS-PAGE
浓度:
Reconstitution Dependent
形态:
Liquid
内毒素水平:
Please contact protein@eiaab.com The technician for more information.
应用:
存储缓冲液:
50mM NaH2PO4, 500mM NaCl Buffer with 500mM Imidazole, 10%glycerol(PH8.0)
存储:
Store at -20°C. (Avoid repeated freezing and thawing.)
研究领域:
-
Human ACTA1 Protein
规格 & 价格: cart
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Human ACTA1 Protein
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产品说明书
说明书: 下载说明书
MSDS: MSDS
在线询价


R&D 技术数据
更多信息,请参阅手册,或联系我们的技术支持: tech@eiaab.com.
基因位点
Cytogenetic band: 1q42.13 by HGNC 1q42.13 by Entrez Gene 1q42.13 by Ensembl
ACTA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
基因位点
通用注释


亚单元:
Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X (By similarity). Interacts with TTID. Interacts (via its C-terminus) with USP25; the interaction occurs for all USP25 isoforms but is strongest for isoform USP25m in muscle differentiating cells.


功能:
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.


亚细胞位置:
Cytoplasm Cytoskeleton


该产品尚未在任何出版物中被引用。

[1].
"The pathogenesis of ACTA1-related congenital fiber type disproportion."

[2].
"The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins."

[3].
"Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred."

[4].
"Actin mutations are one cause of congenital fibre type disproportion."

[5].
"Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1)."

[6].
"Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations."

[7].
"Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms."

[8].
"Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene."

[9].
"Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene."

[10].
"Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy."
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