Product Overview
Description
CLPP-00150208 is recombinant ACTA1 protein, Tagged
Protein Length
Full length protein
Nature
Recombinant Protein
Sequence
MSMEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGIMVGMGQKDSYVGDEAQSKRGILTLRYPIEHGIVTNWDDMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKSNREKMTQIMFETFNAPAFYVSIQA
Sequence Similarities
Belongs to the actin family.
Predicted Molecular Weight
21 kDa including tags
Target Information
Alternative Names
a actin; a-actin; ACTA; ACTA1; Actin; Actin alpha skeletal muscle; actin, alpha 1, skeletal muscle; actin, alpha 1, skeletal muscle 1; Actin, alpha skeletal muscle; actina; actine; ACTS_HUMAN; aktin; Alpha Actin 1; alpha skeletal muscle; Alpha skeletal muscle Actin; alpha-actin; Alpha-actin-1; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1; NEM2; NEM3; nemaline myopathy type 3
Protein Function
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Involvement in Disease
Defects in ACTA1 are the cause of nemaline myopathy type 3 (NEM3). A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-or rod-like structures in muscle fibers on histologic examination. The phenotype at histological level is variable. Some patients present areas devoid of oxidative activity containg (cores) within myofibers. Core lesions are unstructured and poorly circumscribed.Defects in ACTA1 are a cause of myopathy congenital with excess of thin myofilaments (MPCETM). A congenital muscular disorder characterized at histological level by areas of sarcoplasm devoid of normal myofibrils and mitochondria, and replaced with dense masses of thin filaments. Central cores, rods, ragged red fibers, and necrosis are absent.Defects in ACTA1 are a cause of congenital myopathy with fiber-type disproportion (CFTD); 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.
Shipping & Handling
Constituents
Tris buffer, 50% Glycerol (glycerin, glycerine).
Shipping
Shipped at 4 °C.
Storage
Store at -20 °C or -80 °C.
