ACTG1 Proteins

ACTG1 (Actin Gamma 1) is a Protein Coding gene. Diseases associated with ACTG1 include Deafness, Autosomal Dominant 20 and Baraitser-Winter Syndrome 2. Among its related pathways are Oxytocin signaling pathway and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural constituent of cytoskeleton. An important paralog of this gene is ACTB.

The following recombinant ACTG1 proteins are manufactured in house under a complete QC system by CUSABIO. They are expressed by Yeast, E.coli, Baculovirus, Mammalian cell, In Vivo Biotinylation in E.coli. Highlights of these recombinant ACTG1 proteins as follow:
High purity, Low endotoxin, Multiple Tags, Animal-free, Wide applications (Cell assay, Protein-protein interaction, Drug-related studies, Enzymatic activity in vitro, Protein structure analysis, etc.)
In addition, various options on sizes, excellent technical support, and recombinant ACTG1 proteins custom service will be also offered.

ACTG1 Proteins Catalog

ACTG1 Proteins for Rattus norvegicus (Rat)

ACTG1 Proteins for Bos taurus (Bovine)

ACTG1 Proteins for Mus musculus (Mouse)

ACTG1 Proteins for Homo sapiens (Human)

ACTG1 Proteins for Trichosurus vulpecula (Brush-tailed possum)

ACTG1 Proteins for Anser anser anser (Western greylag goose)

ACTG1 Proteins for Xenopus laevis (African clawed frog)

ACTG1 Proteins for Pelophylax lessonae (Pool frog) (Rana lessonae)

ACTG1 Proteins for Gallus gallus (Chicken)

ACTG1 Proteins for Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)

ACTG1 Proteins for Triakis scyllium (Banded houndshark) (Hemigaleus pingi)

ACTG1 Background

The ACTG1 gene encodes the cytoskeletal protein gamma-actin, which plays an important role in determining cell shape and controlling cell movement. Gamma-actin protein also refers to as ACTG1. Human gamma-actin is 41.8 kDa in molecular weight and 375 amino acids in length. Gamma-actin is widely expressed in cellular cytoskeletons of many tissues, particularly abundant in the auditory hair cells of the cochlea [1]. The hair cells are essential for normal hearing. Mutations in ACTG1 are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss [1][2][6]. And Baraitser-Winter syndrome is also linked to ACTG1 mutations [3]. Studies have identified ACTG1 with significantly high expression in skin cancer tissue and suggested that ACTG1 can regulate cell proliferation and migration through the ROCK signaling pathway [4]. And other studies have shown that ACTG1 recurrent mutation leads to isolated ocular coloboma (OC), a defect in optic fissure closure that is a common cause of severe congenital visual impairment [5]. Kevin J. Sonnemann et al. observed that skeletal muscle-specific cytoplasmic γ-Actin knockout (Actg1-msKO) mice dysfunctioned in whole-body tension and isometric twitch force, although their muscle development proceeded normally. They concluded that cytoplasmic γ-Actin is not required for skeletal muscle development but its absence leads to a progressive myopathy [7].

[1] Lee CG, Jang J, et al. A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report [J]. Mol Med Rep. 2018 Jun;17(6):7611-7617.
[2] Liu, P., Li, H., et al. Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family [J]. J Genets Genomics 35, 2008, 553-558.
[3] Riviere, J.B., van Bon, B.W., et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome [J]. Nat Genet 44, 2012, 440–444, S441-S442.
[4] Xinqian Dong Yingsheng Han, et al. Actin Gamma 1, a new skin cancer pathogenic gene, identified by the biological feature?based classification [J]. J Cell Biochem. 2018 Feb;119(2):1406-1419.
[5] Rainger J, Williamson KA, et al. A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma [J]. Hum Mutat. 2017 Aug;38(8):942-946.
[6] Zhu, M., Yang, T., Wei, et al. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26) [J]. Am. J. Hum. Genet. 2003, 73: 1082-1091.
[7] Sonnemann KJ, Fitzsimons DP, et al. Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy [J]. Developmental Cell. Sep. 2006, 11 (3): 387-97.

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